Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
ACTRT2	140625	broad.mit.edu	37	1	2939112	2939112	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:2939112G>A	uc001ajz.2	+	1	1067	c.862G>A	c.(862-864)GAT>AAT	p.D288N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	288						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACCAAGTGTGATACCGACAT	0.632		NA											29	98					0	0	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737775	7737775	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:7737775G>T	uc001aoi.2	+	11	3103	c.2896G>T	c.(2896-2898)GAC>TAC	p.D966Y	CAMTA1_uc010nzv.1_Missense_Mutation_p.D53Y|CAMTA1_uc001aok.3_5'Flank	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCCCAGCACGACTGGCTGTC	0.557		NA											21	52					2.32e-17	5.06e-17	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921146	12921146	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:12921146C>A	uc001aum.1	+	4	1024	c.937C>A	c.(937-939)CTC>ATC	p.L313I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	313											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGTGTCTCTCCCAGTT	0.493		NA											42	175					2.48e-24	5.54e-24	1	0
C1orf63	57035	broad.mit.edu	37	1	25573429	25573429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:25573429C>A	uc001bjw.2	-	2	278	c.26G>T	c.(25-27)TGG>TTG	p.W9L		NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	hypothetical protein LOC57035	9										pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGCCCGGCCACATGTCGTT	0.607		NA											22	89					8.25e-16	1.78e-15	1	0
MPL	4352	broad.mit.edu	37	1	43803901	43803901	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43803901C>A	uc001ciw.2	+	2	256	c.211C>A	c.(211-213)CGG>AGG	p.R71R	MPL_uc001civ.2_Silent_p.R71R|MPL_uc009vwr.2_Silent_p.R64R	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.R71W(1)		haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCTACCCGCGGTAGGTGCT	0.577		NA	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						7	36					0.00448238	0.00718613	1	0
KIAA0467	23334	broad.mit.edu	37	1	43903291	43903291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43903291C>T	uc001cjk.1	+	30	4081	c.3619C>T	c.(3619-3621)CGG>TGG	p.R1207W		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2106						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCAGTGACCGGCCATGGAA	0.577		NA											13	41					0	0	0	0
RNF11	26994	broad.mit.edu	37	1	51735628	51735628	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:51735628G>C	uc001csi.3	+	2	608	c.124G>C	c.(124-126)GAA>CAA	p.E42Q		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	42					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						AATATTTTAGGAACAAGTTCC	0.413		NA											7	33					0	0	0	0
TMEM61	199964	broad.mit.edu	37	1	55451924	55451924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:55451924C>T	uc001cyd.2	+	2	444	c.170C>T	c.(169-171)CCG>CTG	p.P57L		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	57						integral to membrane					0						ACGGAGTATCCGGTGCCTGAG	0.682		NA											27	79					0	0	0	0
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	C	A	rs139189718	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:89523674C>A	uc001dmx.2	-	6	1094	c.874_splice	c.e6+1	p.R292_splice		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,						interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423		NA											28	63					3.65e-15	7.82e-15	1	0
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:100701061C>A	uc001dta.2	-	3	215	c.182G>T	c.(181-183)CGT>CTT	p.R61L	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333		NA											9	22					5.49e-09	1.08e-08	1	0
WDR77	79084	broad.mit.edu	37	1	111991351	111991351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:111991351G>A	uc001ebb.2	-	2	230	c.191C>T	c.(190-192)CCC>CTC	p.P64L	WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.P64L|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	64					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding				0		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGCACAGGGGTCCTTAAA	0.652		NA											3	11					0	0	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145039590	145039590	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:145039590C>G	uc001elx.3	-	1	355	c.20G>C	c.(19-21)AGA>ACA	p.R7T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.R7T|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCCACCTACCTCGTCCAGGT	0.627		NA	T	PDGFRB	MPD								3	53					0	0	0	0
TUFT1	7286	broad.mit.edu	37	1	151553494	151553494	+	Missense_Mutation	SNP	G	G	A	rs150712835		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:151553494G>A	uc001eyl.2	+	12	1147	c.1085G>A	c.(1084-1086)CGG>CAG	p.R362Q	TUFT1_uc001eym.2_Missense_Mutation_p.R337Q|TUFT1_uc010pdf.1_Missense_Mutation_p.R381Q|TUFT1_uc010pdg.1_Missense_Mutation_p.R310Q	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	362					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGCCCGGGCCAAGACA	0.522		NA											16	48					0	0	0	0
FCRL5	83416	broad.mit.edu	37	1	157514694	157514694	+	Silent	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:157514694A>C	uc001fqu.2	-	4	644	c.486T>G	c.(484-486)GGT>GGG	p.G162G	FCRL5_uc009wsm.2_Silent_p.G162G|FCRL5_uc010phv.1_Silent_p.G162G|FCRL5_uc010phw.1_Silent_p.G77G|FCRL5_uc001fqv.1_Silent_p.G162G|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	162	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGATATGCACCATTGTCCT	0.363		NA											13	98					0	0	0	0
ILDR2	387597	broad.mit.edu	37	1	166904662	166904662	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166904662A>T	uc001gdx.1	-	6	812	c.756T>A	c.(754-756)GGT>GGA	p.G252G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	252	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						GGCCGGGGACACCGGAGACAG	0.602		NA											15	39					0	0	0	0
MAEL	84944	broad.mit.edu	37	1	166961962	166961962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166961962G>T	uc001gdy.1	+	4	436	c.365G>T	c.(364-366)AGC>ATC	p.S122I	MAEL_uc001gdz.1_Missense_Mutation_p.S91I|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AACATTTTTAGCCATGGCGAG	0.363		NA											34	35					3.63e-18	7.9e-18	1	0
DUSP27	92235	broad.mit.edu	37	1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:167097477C>T	uc001geb.1	+	5	3109	c.3109C>T	c.(3109-3111)CCA>TCA	p.P1037S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1037					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						AGAGGAGAGCCCAGAGCCCTA	0.587		NA											19	23					0	0	0	0
TNR	7143	broad.mit.edu	37	1	175325503	175325503	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:175325503T>C	uc001gkp.1	-	14	3151	c.3070A>G	c.(3070-3072)ACC>GCC	p.T1024A	TNR_uc009wwu.1_Missense_Mutation_p.T1024A	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1024	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GGTCCATTGGTGGCATACATG	0.507		NA											11	75					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640251	176640251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:176640251G>A	uc001gkz.2	+	4	3301	c.2137G>A	c.(2137-2139)GGT>AGT	p.G713S	PAPPA2_uc001gky.1_Missense_Mutation_p.G713S|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	713	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CACTCACCTGGGTAAGTGAAA	0.433		NA											27	71					0	0	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885313	180885313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:180885313C>G	uc001gok.2	+	2	141	c.74C>G	c.(73-75)ACA>AGA	p.T25R		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	25										ovary(3)|skin(1)	4						GGGAGTGGAACAGCCAGCCCC	0.617		NA											3	41					0	0	0	0
CFH	3075	broad.mit.edu	37	1	196712681	196712681	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:196712681G>T	uc001gtj.3	+	20	3473	c.3233G>T	c.(3232-3234)AGG>ATG	p.R1078M		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1078	Sushi 18.		R -> S (associated with basal laminar drusen).		complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TATCAATGTAGGAGCCCTTAT	0.398		NA											19	72					2.94e-08	5.75e-08	1	0
CRB1	23418	broad.mit.edu	37	1	197396759	197396759	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:197396759G>A	uc001gtz.2	+	7	2439	c.2304G>A	c.(2302-2304)GAG>GAA	p.E768E	CRB1_uc010poz.1_Silent_p.E699E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.E656E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.E249E|CRB1_uc001gub.1_Silent_p.E417E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	768	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTGGCTAGAGCGCGGCAGAC	0.418		NA											20	19					0	0	0	0
OPTC	26254	broad.mit.edu	37	1	203472812	203472812	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:203472812C>T	uc001gzu.1	+	7	1079	c.963C>T	c.(961-963)TTC>TTT	p.F321F		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	321						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGCCTACTTCTGCCTGCCTC	0.632		NA											31	62					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171294	214171294	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:214171294C>A	uc001hkh.2	+	2	1688	c.1416C>A	c.(1414-1416)ACC>ACA	p.T472T	PROX1_uc001hkg.1_Silent_p.T472T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	472					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTCTGCCACCACGGGCTTCA	0.647		NA											59	65					9.77e-20	2.15e-19	1	0
USH2A	7399	broad.mit.edu	37	1	216591996	216591996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:216591996C>T	uc001hku.1	-	3	898	c.511G>A	c.(511-513)GGG>AGG	p.G171R	USH2A_uc001hkv.2_Missense_Mutation_p.G171R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	171	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAATCTGCCCATCTACTGTC	0.388		NA								HNSCC(13;0.011)			7	57					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243362455	243362455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:243362455G>C	uc001hzs.2	-	7	946	c.538C>G	c.(538-540)CCG>GCG	p.P180A	CEP170_uc001hzt.2_Missense_Mutation_p.P180A|CEP170_uc001hzu.2_Missense_Mutation_p.P180A	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	180						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACCATGACGGCTGCCCATAT	0.418		NA											12	16					0	0	0	0
OR2T1	26696	broad.mit.edu	37	1	248569884	248569884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:248569884G>T	uc010pzm.1	+	1	589	c.589G>T	c.(589-591)GGT>TGT	p.G197C		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	197	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTATAGCAGGTTCCTGGTT	0.542		NA											49	49					8.05e-23	1.79e-22	1	0
USP6NL	9712	broad.mit.edu	37	10	11505159	11505159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:11505159C>T	uc001ikt.3	-	15	2089	c.1768G>A	c.(1768-1770)GCT>ACT	p.A590T	USP6NL_uc001iks.1_Missense_Mutation_p.A607T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	590						intracellular	Rab GTPase activator activity				0						CTTGGCTCAGCGTGCTTTCTC	0.562		NA											18	24					0	0	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976392	14976392	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:14976392T>A	uc001inn.2	-	8	750	c.665A>T	c.(664-666)GAA>GTA	p.E222V	DCLRE1C_uc010qbx.1_Missense_Mutation_p.E222V|DCLRE1C_uc001inl.2_Missense_Mutation_p.E102V|DCLRE1C_uc009xji.2_Missense_Mutation_p.E107V|DCLRE1C_uc001inm.2_Missense_Mutation_p.E102V|DCLRE1C_uc001ino.2_Missense_Mutation_p.E107V|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.E102V|DCLRE1C_uc001inq.2_Missense_Mutation_p.E102V|DCLRE1C_uc001inr.2_Missense_Mutation_p.E107V|DCLRE1C_uc009xjj.1_RNA	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	222					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GACTCCTAATTCTTCACTAAG	0.323		NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					28	108					0	0	0	0
GPR158	57512	broad.mit.edu	37	10	25887011	25887011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:25887011G>T	uc001isj.2	+	11	2516	c.2456G>T	c.(2455-2457)AGC>ATC	p.S819I	GPR158_uc001isk.2_Missense_Mutation_p.S194I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	819	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AAATCCCACAGCACTTATGAC	0.512		NA											22	135					2.08e-23	4.64e-23	1	0
APBB1IP	54518	broad.mit.edu	37	10	26802519	26802519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:26802519C>G	uc001iss.2	+	8	1064	c.743C>G	c.(742-744)ACA>AGA	p.T248R	APBB1IP_uc009xks.1_Missense_Mutation_p.T248R	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	248	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						TCAGACTGGACAAGAGACACA	0.343		NA											13	62					0	0	0	0
NCOA4	8031	broad.mit.edu	37	10	51585571	51585571	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:51585571A>T	uc001jis.3	+	8	1873	c.1670A>T	c.(1669-1671)GAC>GTC	p.D557V	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.D573V|NCOA4_uc010qhd.1_Missense_Mutation_p.D573V|NCOA4_uc010qhe.1_Missense_Mutation_p.D457V|NCOA4_uc010qhf.1_Missense_Mutation_p.D391V|NCOA4_uc001jit.2_Missense_Mutation_p.D557V|NCOA4_uc009xoo.2_Missense_Mutation_p.D557V	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	557					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TCTGGAGAAGACAAGTGGCTG	0.388		NA	T	RET	papillary thyroid 								30	60					0	0	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648688	62648688	+	Silent	SNP	T	T	A	rs148015761		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:62648688T>A	uc001jli.2	-	7	1176	c.738A>T	c.(736-738)CCA>CCT	p.P246P	RHOBTB1_uc001jlh.2_Silent_p.P246P|RHOBTB1_uc001jlj.2_Silent_p.P246P|RHOBTB1_uc001jlk.2_Silent_p.P246P|RHOBTB1_uc009xpe.1_Silent_p.P184P|RHOBTB1_uc001jll.2_5'UTR	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					AAGGACACTCTGGAATTTTGA	0.478		NA											41	137					0	0	0	0
USP54	159195	broad.mit.edu	37	10	75276690	75276690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:75276690G>A	uc001juo.2	-	18	3511	c.3494C>T	c.(3493-3495)CCT>CTT	p.P1165L	USP54_uc010qkk.1_Missense_Mutation_p.P347L|USP54_uc001juk.2_Missense_Mutation_p.P253L|USP54_uc001jul.2_Missense_Mutation_p.P253L|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1165					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					AGAATCAGAAGGGGAAGAGTT	0.507		NA											49	115					0	0	0	0
KCNMA1	3778	broad.mit.edu	37	10	79163662	79163662	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:79163662C>A	uc001jxn.2	-	2	675	c.498G>T	c.(496-498)GCG>GCT	p.A166A	KCNMA1_uc001jxj.2_Silent_p.A166A|KCNMA1_uc001jxo.2_Silent_p.A166A|KCNMA1_uc001jxm.2_Silent_p.A166A|KCNMA1_uc001jxq.2_Silent_p.A166A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	166	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATCACCCCCGCCCAGTCCT	0.607		NA											7	27					0.00198382	0.003216	1	0
PKD2L1	9033	broad.mit.edu	37	10	102089669	102089669	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:102089669G>T	uc001kqx.1	-	1	575	c.192C>A	c.(190-192)ACC>ACA	p.T64T	PKD2L1_uc009xwm.1_Missense_Mutation_p.P10H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	64	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGACACCTGGGTCCTGTATG	0.567		NA											9	60					7.48e-07	1.41e-06	1	0
PSD	5662	broad.mit.edu	37	10	104173584	104173584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:104173584G>T	uc001kvg.1	-	5	2022	c.1495C>A	c.(1495-1497)CCC>ACC	p.P499T	PSD_uc001kvh.1_Missense_Mutation_p.P120T|PSD_uc009xxd.1_Missense_Mutation_p.P499T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	499					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGACTAGGGGGCTCCCTCCCT	0.632		NA											9	33					1.34e-11	2.75e-11	1	0
SMC3	9126	broad.mit.edu	37	10	112328765	112328765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:112328765G>A	uc001kze.2	+	2	211	c.85G>A	c.(85-87)GTG>ATG	p.V29M		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	29					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAACATAATGTGATTGGTAA	0.328		NA											32	28					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122624702	122624702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:122624702G>T	uc010qtf.1	+	6	1095	c.857G>T	c.(856-858)CGC>CTC	p.R286L	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	286						integral to membrane					0						GCAATAGAACGCACAGGAGTT	0.358		NA											20	47					2.46e-09	4.91e-09	1	0
DMBT1	1755	broad.mit.edu	37	10	124339338	124339338	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124339338C>T	uc001lgk.1	+	10	1030	c.924C>T	c.(922-924)TCC>TCT	p.S308S	DMBT1_uc001lgl.1_Silent_p.S308S|DMBT1_uc001lgm.1_Silent_p.S308S|DMBT1_uc009xzz.1_Silent_p.S308S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.S160S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	308	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACATGAGTCCTACCTGTGGA	0.597		NA											59	131					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124358568T>A	uc001lgk.1	+	26	3341	c.3235T>A	c.(3235-3237)TCC>ACC	p.S1079T	DMBT1_uc001lgl.1_Missense_Mutation_p.S1069T|DMBT1_uc001lgm.1_Missense_Mutation_p.S580T|DMBT1_uc009xzz.1_Missense_Mutation_p.S1079T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S40T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1079	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCTCCCACAACTG	0.572		NA											7	180					0	0	0	0
IFITM1	8519	broad.mit.edu	37	11	314246	314246	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:314246A>C	uc001loy.3	+	1	256	c.76A>C	c.(76-78)AAC>CAC	p.N26H		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	26	Extracellular (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCGTGATCAACATCCACAG	0.572		NA											4	116					0	0	0	0
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:314253A>G	uc001loy.3	+	1	263	c.83A>G	c.(82-84)CAC>CGC	p.H28R		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	28	Extracellular (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582		NA											5	118					0	0	0	0
OR51G2	81282	broad.mit.edu	37	11	4935987	4935987	+	Nonsense_Mutation	SNP	G	G	A	rs150667862	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4935987G>A	uc001lzr.1	-	1	907	c.907C>T	c.(907-909)CAG>TAG	p.Q303*		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCGGATCTGTTTGGTCTTC	0.478		NA											12	19					0	0	0	0
OR52D1	390066	broad.mit.edu	37	11	5510098	5510098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5510098G>C	uc010qzg.1	+	1	162	c.162G>C	c.(160-162)ATG>ATC	p.M54I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGCCATGGACAATGCTC	0.527		NA											31	99					0	0	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530436	5530436	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5530436G>T	uc001may.1	-	2	439	c.353C>A	c.(352-354)CCT>CAT	p.P118H	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	118										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGCTGAGGGAGTGATCC	0.607		NA											14	36					4.38e-07	8.36e-07	1	0
OR56A3	390083	broad.mit.edu	37	11	5968729	5968729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5968729G>T	uc010qzt.1	+	1	153	c.153G>T	c.(151-153)ATG>ATT	p.M51I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607		NA											26	105					1.55e-18	3.4e-18	1	0
OR56A1	120796	broad.mit.edu	37	11	6048387	6048387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6048387T>A	uc010qzw.1	-	1	548	c.548A>T	c.(547-549)AAC>ATC	p.N183I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGATGCAGTTCTCAATGAC	0.478		NA											37	77					0	0	0	0
TRIM3	10612	broad.mit.edu	37	11	6477901	6477901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6477901C>G	uc001mdh.2	-	7	1442	c.1055G>C	c.(1054-1056)GGG>GCG	p.G352A	TRIM3_uc001mdi.2_Missense_Mutation_p.G352A|TRIM3_uc010raj.1_Missense_Mutation_p.G233A|TRIM3_uc009yfd.2_Missense_Mutation_p.G352A|TRIM3_uc010rak.1_Missense_Mutation_p.G352A|TRIM3_uc001mdj.2_Missense_Mutation_p.G233A	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	352	Filamin.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCAACCGCCCGTCCTTGTC	0.672		NA											18	57					0	0	0	0
OR10A5	144124	broad.mit.edu	37	11	6867169	6867169	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6867169C>A	uc001met.1	+	1	256	c.256C>A	c.(256-258)CTG>ATG	p.L86M		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGGGGACCCTGCTTGCCCA	0.498		NA											25	128					4.88e-14	1.02e-13	1	0
OR10A3	26496	broad.mit.edu	37	11	7960256	7960256	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:7960256T>C	uc010rbi.1	-	1	812	c.812A>G	c.(811-813)AAG>AGG	p.K271R		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	271	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATCAGTTTCTTGGTTTCGGG	0.443		NA											11	56					0	0	0	0
FSHB	2488	broad.mit.edu	37	11	30253578	30253578	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:30253578C>T	uc001msl.2	+	2	198	c.129C>T	c.(127-129)ACC>ACT	p.T43T	FSHB_uc001msm.2_Silent_p.T43T|FSHB_uc001msn.2_Silent_p.T43T	NM_000510	NP_000501	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	43					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			ovary(3)	3					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCATCAACACCACTTGGTGTG	0.458		NA											15	51					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136707	40136707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:40136707G>T	uc001mxa.1	-	2	3100	c.1136C>A	c.(1135-1137)ACA>AAA	p.T379K	LRRC4C_uc001mxc.1_Missense_Mutation_p.T375K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T375K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T375K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCAGGGATGTGGAGGCCCG	0.498		NA											21	80					2.71e-06	5e-06	1	0
OR9G9	504191	broad.mit.edu	37	11	56468409	56468409	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:56468409C>T	uc010rjn.1	+	1	546	c.546C>T	c.(544-546)CCC>CCT	p.P182P		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATTTGCTTCCCTTGGTGGAGC	0.468		NA											28	105					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62284353	62284353	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:62284353C>A	uc001ntl.2	-	5	17836	c.17536G>T	c.(17536-17538)GGC>TGC	p.G5846C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5846					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGTAACTTGCCTGTCTCATCA	0.512		NA											32	106					3.9e-15	8.34e-15	1	0
CDK2AP2	10263	broad.mit.edu	37	11	67275066	67275066	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:67275066C>A	uc001oma.2	-	2	726	c.177G>T	c.(175-177)GTG>GTT	p.V59V	PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Silent_p.V68V	NM_005851	NP_005842	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	59											0						CACTCACCTGCACGTAGCCCA	0.627		NA											9	39					5.49e-09	1.08e-08	1	0
NAALAD2	10003	broad.mit.edu	37	11	89902135	89902135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89902135T>A	uc001pdf.3	+	12	1426	c.1317T>A	c.(1315-1317)TAT>TAA	p.Y439*	NAALAD2_uc009yvx.2_Nonsense_Mutation_p.Y406*|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	439	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCATTGCTTATATCAACTCGG	0.284		NA											16	34					0	0	0	0
EXPH5	23086	broad.mit.edu	37	11	108383615	108383615	+	Silent	SNP	C	C	A	rs114840330	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:108383615C>A	uc001pkk.2	-	6	2730	c.2619G>T	c.(2617-2619)TCG>TCT	p.S873S	EXPH5_uc010rvy.1_Silent_p.S685S|EXPH5_uc010rvz.1_Silent_p.S717S|EXPH5_uc010rwa.1_Silent_p.S797S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	873					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413		NA											34	96					1.36e-19	3e-19	1	0
ZW10	9183	broad.mit.edu	37	11	113630936	113630936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:113630936G>C	uc001poe.2	-	5	612	c.575C>G	c.(574-576)TCA>TGA	p.S192*	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	192	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGCACCTTTTGATGGTGGGAA	0.423		NA											15	35					0	0	0	0
IL10RA	3587	broad.mit.edu	37	11	117869498	117869498	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:117869498C>A	uc001prv.2	+	7	956	c.879C>A	c.(877-879)ATC>ATA	p.I293I	IL10RA_uc010rxl.1_Silent_p.I273I|IL10RA_uc010rxm.1_Silent_p.I273I|IL10RA_uc010rxn.1_Silent_p.I144I|IL10RA_uc001prw.2_Silent_p.I144I	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	293	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AAGACACCATCCACCCGCTTG	0.577		NA											13	45					0.00136819	0.00224027	1	0
FOXR1	283150	broad.mit.edu	37	11	118850289	118850289	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118850289C>G	uc001pui.2	+	4	747	c.522C>G	c.(520-522)CCC>CCG	p.P174P	FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGTCCCGGCCCCCTCTCAATT	0.597		NA											15	85					0	0	0	0
OR10G8	219869	broad.mit.edu	37	11	123901012	123901012	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901012G>T	uc001pzp.1	+	1	683	c.683G>T	c.(682-684)CGC>CTC	p.R228L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGCGGATCCGCACCTCAGAG	0.527		NA											29	80					2.13e-12	4.4e-12	1	0
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901065G>A	uc001pzp.1	+	1	736	c.736G>A	c.(736-738)GTG>ATG	p.V246M		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542		NA											18	95					0	0	0	0
SPATA19	219938	broad.mit.edu	37	11	133714155	133714155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:133714155C>G	uc001qgv.1	-	4	396	c.345G>C	c.(343-345)CAG>CAC	p.Q115H		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	115					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTTATGAACTGGATTCGTG	0.537		NA											38	65					0	0	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240963	134240963	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:134240963A>T	uc001qhp.2	+	13	1465	c.1277A>T	c.(1276-1278)CAG>CTG	p.Q426L	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	426					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGAAATGGACAGTCCTTCGGG	0.537		NA											26	105					0	0	0	0
SLC6A12	6539	broad.mit.edu	37	12	309926	309926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:309926G>T	uc001qhz.2	-	8	1145	c.602C>A	c.(601-603)TCG>TAG	p.S201*	SLC6A12_uc001qhx.2_5'Flank|SLC6A12_uc001qhy.2_5'Flank|SLC6A12_uc001qia.2_Nonsense_Mutation_p.S201*|SLC6A12_uc001qib.2_Nonsense_Mutation_p.S201*|SLC6A12_uc009zdh.1_Nonsense_Mutation_p.S201*|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	201	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGGATGCCCGAGGTGATGCC	0.567		NA											29	82					5.46e-16	1.18e-15	1	0
CLEC7A	64581	broad.mit.edu	37	12	10279171	10279171	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10279171T>A	uc001qxg.2	-	3	526	c.339A>T	c.(337-339)ACA>ACT	p.T113T	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Intron|CLEC7A_uc001qxh.2_Intron|CLEC7A_uc001qxi.2_Silent_p.T113T|CLEC7A_uc001qxj.2_Intron|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Silent_p.T113T|CLEC7A_uc010sgy.1_Intron|CLEC7A_uc001qxm.1_Intron	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	113	Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						TGCCCTTGCCTGTGGTTTTGA	0.423		NA											31	89					0	0	0	0
OLR1	4973	broad.mit.edu	37	12	10319426	10319426	+	Silent	SNP	C	C	T	rs146929021		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10319426C>T	uc001qxo.1	-	3	423	c.309G>A	c.(307-309)AAG>AAA	p.K103K	OLR1_uc010sgz.1_5'UTR|OLR1_uc010sha.1_Silent_p.K103K	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	103	Extracellular (Potential).|Neck.|Potential.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						CTATCATTTCCTTGAGTTCGT	0.448		NA											36	132					0	0	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457428	21457428	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:21457428G>T	uc001rer.2	-	5	773	c.522C>A	c.(520-522)CCC>CCA	p.P174P	SLCO1A2_uc001res.2_Silent_p.P174P|SLCO1A2_uc010siq.1_Silent_p.P42P|SLCO1A2_uc010sio.1_Silent_p.P42P|SLCO1A2_uc010sip.1_Silent_p.P42P|SLCO1A2_uc001ret.2_Silent_p.P172P|SLCO1A2_uc001reu.2_Silent_p.P154P	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	174	Helical; Name=4; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AAGGCAGGATGGGAGTTTCAC	0.343		NA											20	36					2.39e-15	5.13e-15	1	0
LRRK2	120892	broad.mit.edu	37	12	40714839	40714839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40714839G>T	uc001rmg.3	+	35	5140	c.5019G>T	c.(5017-5019)TTG>TTT	p.L1673F	LRRK2_uc009zjw.2_Missense_Mutation_p.L511F|LRRK2_uc001rmi.2_Missense_Mutation_p.L506F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1673					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTTAGTTTGTCTGACCACA	0.388		NA											27	118					1.75e-13	3.66e-13	1	0
LRRK2	120892	broad.mit.edu	37	12	40728910	40728910	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40728910A>T	uc001rmg.3	+	40	6020	c.5899A>T	c.(5899-5901)ACT>TCT	p.T1967S	LRRK2_uc009zjw.2_Missense_Mutation_p.T805S|LRRK2_uc001rmi.2_Missense_Mutation_p.T800S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1967	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCCAGCCTCACTAGAACCCT	0.507		NA											24	58					0	0	0	0
DBX2	440097	broad.mit.edu	37	12	45429852	45429852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:45429852G>T	uc001rok.1	-	2	621	c.449C>A	c.(448-450)GCG>GAG	p.A150E		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		accgcagcacgccgagtagaa	0.06		NA											5	27					2.01e-06	3.72e-06	1	0
SCN8A	6334	broad.mit.edu	37	12	52115638	52115638	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:52115638G>T	uc001ryw.2	+	12	2122	c.1944G>T	c.(1942-1944)GTG>GTT	p.V648V	SCN8A_uc010snl.1_Silent_p.V513V|SCN8A_uc001ryx.1_Silent_p.V513V|SCN8A_uc001ryz.1_Silent_p.V513V|SCN8A_uc001ryy.2_Silent_p.V513V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	648					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACGGCGTGGTGTCCCTCA	0.577		NA											18	69					4.35e-09	8.64e-09	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54115880	54115880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:54115880G>A	uc001sef.2	-	5	682	c.538C>T	c.(538-540)CGA>TGA	p.R180*	CALCOCO1_uc010som.1_Nonsense_Mutation_p.R147*|CALCOCO1_uc010son.1_Nonsense_Mutation_p.R57*|CALCOCO1_uc001seh.2_Nonsense_Mutation_p.R180*|CALCOCO1_uc009znd.2_Nonsense_Mutation_p.R180*|CALCOCO1_uc001seg.2_Nonsense_Mutation_p.R57*|CALCOCO1_uc010soo.1_Nonsense_Mutation_p.R173*	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	180	Potential.|N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						TCCTGCACTCGGCTCCTCAGC	0.607		NA											32	81					0	0	0	0
OR10A7	121364	broad.mit.edu	37	12	55615418	55615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:55615418C>T	uc010spf.1	+	1	610	c.610C>T	c.(610-612)CTC>TTC	p.L204F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TGCCTCCACACTCCTGTTTAT	0.463		NA											25	63					0	0	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169129	60169129	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:60169129T>C	uc001sqs.2	+	5	1352	c.1053T>C	c.(1051-1053)TTT>TTC	p.F351F	SLC16A7_uc001sqt.2_Silent_p.F351F|SLC16A7_uc001squ.2_Silent_p.F351F|SLC16A7_uc009zqi.2_Silent_p.F252F|SLC16A7_uc010ssi.1_Silent_p.F252F	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	351	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCCTTGGATTTGGGAGTGTTA	0.478		NA											4	169					0	0	0	0
RASSF3	283349	broad.mit.edu	37	12	65085357	65085357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:65085357G>A	uc001ssd.2	+	4	685	c.565G>A	c.(565-567)GAG>AAG	p.E189K	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.E119K	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	189	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TGAAATTGGAGAGGTAAGTTA	0.413		NA											6	23					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78400711	78400711	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:78400711C>A	uc001syp.2	+	8	1566	c.1393C>A	c.(1393-1395)CCA>ACA	p.P465T	NAV3_uc001syo.2_Missense_Mutation_p.P465T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	465						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTGCTACAGCCAAAGGAAAA	0.408		NA								HNSCC(70;0.22)			12	56					2.81e-09	5.59e-09	1	0
CEP290	80184	broad.mit.edu	37	12	88487640	88487640	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:88487640C>A	uc001tar.2	-	28	3560	c.3216G>T	c.(3214-3216)CGG>CGT	p.R1072R	CEP290_uc001taq.2_Silent_p.R132R|CEP290_uc001tat.2_Silent_p.R865R	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AATGTTCAGCCCGCTGCCTTT	0.348		NA											14	28					4.38e-07	8.36e-07	1	0
ANKS1B	56899	broad.mit.edu	37	12	99793503	99793503	+	Silent	SNP	T	T	A	rs34594552		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:99793503T>A	uc001tge.1	-	12	2079	c.1662A>T	c.(1660-1662)ACA>ACT	p.T554T	ANKS1B_uc001tgf.1_Silent_p.T134T|ANKS1B_uc009ztt.1_Silent_p.T520T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	554						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGCACCCTGTAGATGTGT	0.428		NA											24	69					0	0	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657483	100657483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:100657483A>G	uc001thi.2	-	2	349	c.346T>C	c.(346-348)TCT>CCT	p.S116P	DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Intron|DEPDC4_uc009ztv.1_Missense_Mutation_p.S116P|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	116	DEP.				intracellular signal transduction						0						TTAAGACAAGAGATGTCATTG	0.363		NA											23	77					0	0	0	0
ANO4	121601	broad.mit.edu	37	12	101442142	101442142	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:101442142A>T	uc010svm.1	+	14	1847	c.1275A>T	c.(1273-1275)GGA>GGT	p.G425G	ANO4_uc001thw.2_Silent_p.G390G|ANO4_uc001thx.2_Silent_p.G425G|ANO4_uc001thy.2_5'UTR	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	425	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TTGACAATGGAGCCACTGTCT	0.348		NA								HNSCC(74;0.22)			13	42					0	0	0	0
CCDC53	51019	broad.mit.edu	37	12	102433723	102433723	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:102433723T>C	uc010svw.1	-	5	517	c.358A>G	c.(358-360)AGT>GGT	p.S120G	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.S119G	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	120						WASH complex	protein binding				0						GATACTTCACTTTCCTGTAGT	0.373		NA											37	130					0	0	0	0
SLC41A2	84102	broad.mit.edu	37	12	105260336	105260336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:105260336G>A	uc001tla.2	-	6	1216	c.1049C>T	c.(1048-1050)CCA>CTA	p.P350L		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	350	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACCAACTAATGGAGAAATGTA	0.343		NA											16	73					0	0	0	0
C12orf51	283450	broad.mit.edu	37	12	112605241	112605241	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:112605241C>G	uc009zwc.2	-	65	11166	c.11148G>C	c.(11146-11148)CCG>CCC	p.P3716P		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CCAGGGGCAGCGGGACGTCTG	0.622		NA											17	57					0	0	0	0
RASAL1	8437	broad.mit.edu	37	12	113541858	113541858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:113541858G>T	uc001tum.1	-	19	2287	c.1994C>A	c.(1993-1995)TCG>TAG	p.S665*	RASAL1_uc010syp.1_Nonsense_Mutation_p.S666*|RASAL1_uc001tul.2_Nonsense_Mutation_p.S637*|RASAL1_uc001tun.1_Nonsense_Mutation_p.S667*|RASAL1_uc010syq.1_Nonsense_Mutation_p.S666*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.S666*	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	665	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GCGCAAGGCCGAGAGCCACTG	0.711		NA											3	15					6.4e-05	0.000111982	1	0
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:122396265G>A	uc009zxk.2	+	12	1960	c.1818G>A	c.(1816-1818)AAG>AAA	p.K606K		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	606	WD 6.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGAGCCCAAGGATGCCATTT	0.448		NA											40	134					0	0	0	0
CHFR	55743	broad.mit.edu	37	12	133435715	133435715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133435715C>T	uc001ulf.2	-	8	970	c.886G>A	c.(886-888)GAC>AAC	p.D296N	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D284N|CHFR_uc010tbs.1_Missense_Mutation_p.D296N|CHFR_uc001uld.2_Missense_Mutation_p.D255N|CHFR_uc010tbt.1_Missense_Mutation_p.D204N	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	296					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597		NA											13	42					0	0	0	0
ZNF140	7699	broad.mit.edu	37	12	133682776	133682776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133682776G>T	uc001ulo.2	+	5	1583	c.913G>T	c.(913-915)GAA>TAA	p.E305*	ZNF140_uc001ulp.2_Nonsense_Mutation_p.E202*|ZNF140_uc010tbu.1_Nonsense_Mutation_p.E202*	NM_003440	NP_003431	P52738	ZN140_HUMAN	zinc finger protein 140	305	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCATTGAATGTGGGAA	0.408		NA											20	48					2.94e-08	5.75e-08	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24200851	24200851	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:24200851A>G	uc001uov.1	+	5	429	c.365A>G	c.(364-366)TAT>TGT	p.Y122C	TNFRSF19_uc001uot.2_Missense_Mutation_p.Y122C|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.Y122C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	122	Extracellular (Potential).|TNFR-Cys 3.				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTAGATTTTATAGGAAGACG	0.443		NA											14	33					0	0	0	0
HSPH1	10808	broad.mit.edu	37	13	31711555	31711555	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:31711555T>C	uc001utj.2	-	18	2875	c.2477A>G	c.(2476-2478)GAA>GGA	p.E826G	HSPH1_uc001utk.2_Missense_Mutation_p.E782G|HSPH1_uc010aaw.2_Missense_Mutation_p.E785G|HSPH1_uc001utl.2_Missense_Mutation_p.E828G|HSPH1_uc010tds.1_Missense_Mutation_p.E750G	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	826					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCTAAATCTTCTTCCTTTTT	0.363		NA											19	47					0	0	0	0
CPB2	1361	broad.mit.edu	37	13	46661882	46661882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:46661882C>A	uc001vaw.2	-	2	215	c.148G>T	c.(148-150)GAG>TAG	p.E50*	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.E50*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	50					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAATTACCTCATATGTTGTA	0.378		NA											28	37					2.61e-14	5.52e-14	1	0
TEP1	7011	broad.mit.edu	37	14	20874489	20874489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:20874489C>T	uc001vxe.2	-	3	678	c.638G>A	c.(637-639)GGA>GAA	p.G213E	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G213E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	213					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTCCTCCTCTCCCAAGCTCAG	0.502		NA											25	82					0	0	0	0
CPNE6	9362	broad.mit.edu	37	14	24543809	24543809	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:24543809G>C	uc001wll.2	+	6	667	c.568G>C	c.(568-570)GTC>CTC	p.V190L	CPNE6_uc010tnv.1_Missense_Mutation_p.V245L|CPNE6_uc001wlm.2_Missense_Mutation_p.V15L|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	190	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		TGATCAGCTGGTCTGGAGAAC	0.517		NA											8	60					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62547693	62547693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:62547693G>C	uc001xfu.1	+	4	1332	c.1135G>C	c.(1135-1137)GAT>CAT	p.D379H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	379	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGGCCTCCCAGATAAGGACCG	0.537		NA											5	18					0	0	0	0
AHSA1	10598	broad.mit.edu	37	14	77929012	77929012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:77929012C>T	uc001xtw.2	+	4	542	c.382C>T	c.(382-384)CCT>TCT	p.P128S	AHSA1_uc010tvk.1_Missense_Mutation_p.P128S	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	128					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGATGAGCCTGACACAAA	0.463		NA											19	63					0	0	0	0
GALC	2581	broad.mit.edu	37	14	88401201	88401201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:88401201G>C	uc001xvt.2	-	17	2332	c.1933C>G	c.(1933-1935)CTG>GTG	p.L645V	GALC_uc010tvw.1_Intron|GALC_uc010tvx.1_Missense_Mutation_p.L619V|GALC_uc010tvy.1_Missense_Mutation_p.L622V|GALC_uc010tvz.1_Intron	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	645			L -> R (in GLD; adult).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TTGTCATTCAGCATGCCAGAG	0.428		NA											10	30					0	0	0	0
TTC7B	145567	broad.mit.edu	37	14	91084371	91084371	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:91084371C>T	uc001xyp.2	-	16	1892	c.1770G>A	c.(1768-1770)GTG>GTA	p.V590V	TTC7B_uc001xyo.2_Silent_p.V17V|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	590							binding			ovary(2)	2		Melanoma(154;0.222)				ACTGCAACTTCACTTTGGAAA	0.542		NA											19	38					0	0	0	0
RIN3	79890	broad.mit.edu	37	14	93125658	93125658	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:93125658C>G	uc001yap.2	+	7	2331	c.2179C>G	c.(2179-2181)CTA>GTA	p.L727V	RIN3_uc010auk.2_Missense_Mutation_p.L389V|RIN3_uc001yaq.2_Missense_Mutation_p.L652V|RIN3_uc001yar.1_Missense_Mutation_p.L389V|RIN3_uc001yas.1_Missense_Mutation_p.L389V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	727	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CACCACTGACCTAGGTGTGAC	0.552		NA											33	102					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410214	105410214	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:105410214G>A	uc010axc.1	-	7	11694	c.11574C>T	c.(11572-11574)GCC>GCT	p.A3858A	AHNAK2_uc001ypx.2_Silent_p.A3758A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3858						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTCAGGTCGGCAGAATGGG	0.632		NA											60	193					0	0	0	0
NIPA1	123606	broad.mit.edu	37	15	23049038	23049038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23049038C>A	uc001yvc.2	-	5	806	c.781G>T	c.(781-783)GGG>TGG	p.G261W	NIPA1_uc001yvd.2_Missense_Mutation_p.G91W|NIPA1_uc001yve.2_Missense_Mutation_p.G186W	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	261	Helical; (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAGATGGCCCCGAACACCGAG	0.607		NA											12	21					0.00010058	0.000174776	1	0
MKRN3	7681	broad.mit.edu	37	15	23811310	23811310	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23811310C>G	uc001ywh.3	+	1	857	c.381C>G	c.(379-381)GCC>GCG	p.A127A	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A127A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGATGGCCACTGAGGGTG	0.607		NA											23	34					0	0	0	0
GABRA5	2558	broad.mit.edu	37	15	27185148	27185148	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:27185148C>G	uc001zbd.1	+	10	1140	c.801C>G	c.(799-801)CCC>CCG	p.P267P	GABRB3_uc001zbb.2_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	267	Helical; (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCTTCCCTGCATAATGA	0.493		NA											11	16					0	0	0	0
MTMR10	54893	broad.mit.edu	37	15	31253125	31253125	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:31253125C>A	uc001zfh.1	-	7	815	c.717G>T	c.(715-717)TGG>TGT	p.W239C	MTMR10_uc010azx.1_5'UTR|MTMR10_uc001zfi.1_5'UTR|MTMR10_uc001zfj.2_Missense_Mutation_p.W157C|MTMR10_uc001zfk.2_5'UTR|MTMR10_uc010ubl.1_RNA	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	239	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AACAAACTCTCCACCCGGAAG	0.418		NA											7	15					1.13e-05	2.02e-05	1	0
CHRNA7	1139	broad.mit.edu	37	15	32460234	32460234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:32460234C>T	uc001zft.2	+	10	1156	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R181W|CHRNA7_uc010bak.2_Missense_Mutation_p.R277W	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	362	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCACAAGCAGCGGCGCTGCAG	0.687		NA											17	43					0	0	0	0
C15orf55	256646	broad.mit.edu	37	15	34646693	34646693	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:34646693G>C	uc001zif.2	+	5	1193	c.1038G>C	c.(1036-1038)CGG>CGC	p.R346R	C15orf55_uc010ucc.1_Silent_p.R374R|C15orf55_uc010ucd.1_Silent_p.R364R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	346						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCCCCGCCGGCGTCAGCGTA	0.557		NA	T	BRD3|BRD4	lethal midline carcinoma								23	62					0	0	0	0
LCMT2	9836	broad.mit.edu	37	15	43621835	43621835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43621835G>A	uc001zrg.2	-	1	1057	c.853C>T	c.(853-855)CGG>TGG	p.R285W	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	285					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCACCCGCCGGCGTTCTTCT	0.557		NA											14	34					0	0	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928002	43928002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43928002C>A	uc001zsh.2	-	9	1259	c.1044G>T	c.(1042-1044)AGG>AGT	p.R348S	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.R348S|CATSPER2_uc001zsj.2_Missense_Mutation_p.R348S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	348	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGCTCTTTCCTGATATTCT	0.512		NA											13	20					0.00244969	0.0039565	1	0
TEX9	374618	broad.mit.edu	37	15	56683602	56683602	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:56683602A>T	uc002adp.2	+	7	562	c.557A>T	c.(556-558)AAT>ATT	p.N186I	TEX9_uc002ado.1_Missense_Mutation_p.N186I|TEX9_uc010ugl.1_Missense_Mutation_p.N111I|TEX9_uc002adq.1_Missense_Mutation_p.N111I	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	186											0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GGTGTTAGTAATGACATTGGA	0.313		NA											11	27					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62242607	62242607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:62242607C>A	uc002agz.2	-	41	4620	c.4546G>T	c.(4546-4548)GAT>TAT	p.D1516Y	VPS13C_uc002aha.2_Missense_Mutation_p.D1473Y|VPS13C_uc002ahb.1_Missense_Mutation_p.D1516Y|VPS13C_uc002ahc.1_Missense_Mutation_p.D1473Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1516					protein localization					ovary(2)	2						TCTGGTCCATCACTGTCTGCC	0.313		NA											5	15					0.000602214	0.00100113	1	0
MEGF11	84465	broad.mit.edu	37	15	66249955	66249955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:66249955G>T	uc002apm.2	-	10	1358	c.1217C>A	c.(1216-1218)CCT>CAT	p.P406H	MEGF11_uc002apl.2_Missense_Mutation_p.P331H|MEGF11_uc002apn.1_Missense_Mutation_p.P406H	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	406	EGF-like 7.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						ACAGGTGCAAGGCAGCTGGCA	0.612		NA											9	19					1.13e-05	2.02e-05	1	0
SGK269	79834	broad.mit.edu	37	15	77425541	77425541	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:77425541T>A	uc002bcm.2	-	5	4191	c.3883A>T	c.(3883-3885)ACA>TCA	p.T1295S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1295					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AAGGCATCTGTATGAAGGCTT	0.507		NA											41	110					0	0	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:88669548G>A	uc002bme.1	-	12	1512	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F	NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.1_Silent_p.F450F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.2_Silent_p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			12	27					0	0	0	0
IGF1R	3480	broad.mit.edu	37	15	99251053	99251053	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:99251053C>A	uc002bul.2	+	2	407	c.357C>A	c.(355-357)ATC>ATA	p.I119I	IGF1R_uc010urq.1_Silent_p.I119I|IGF1R_uc010bon.2_Silent_p.I119I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	119					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCTGGTCATCTTCGAGATGA	0.532		NA											32	28					2.82e-10	5.73e-10	1	0
ABAT	18	broad.mit.edu	37	16	8851634	8851634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:8851634C>G	uc002czc.3	+	6	503	c.337C>G	c.(337-339)CTG>GTG	p.L113V	ABAT_uc002czd.3_Missense_Mutation_p.L113V|ABAT_uc010buh.2_Missense_Mutation_p.L55V|ABAT_uc010bui.2_Missense_Mutation_p.L113V	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	113				L -> V (in Ref. 1; AAA74449).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCCGCCCTGCTGAAACTCAT	0.522		NA											11	43					0	0	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261971	21261971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:21261971C>T	uc010bwp.1	+	2	1127	c.1084C>T	c.(1084-1086)CCT>TCT	p.P362S	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	362	SAM.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		AGAATTCCTGCCTATCTTCAA	0.522		NA											17	40					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30745886	30745886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:30745886G>A	uc002dze.1	+	31	7064	c.6679G>A	c.(6679-6681)GAA>AAA	p.E2227K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2022K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2227	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTCTGCCCCTGAAGAGGAGGA	0.498		NA											35	93					0	0	0	0
PYDC1	260434	broad.mit.edu	37	16	31228118	31228118	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31228118T>C	uc002ebo.2	-	1	281	c.232A>G	c.(232-234)ATG>GTG	p.M78V	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	78	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						TCCTCCAACATGCGCATGTCG	0.662		NA											16	53					0	0	0	0
ITGAM	3684	broad.mit.edu	37	16	31340609	31340609	+	Missense_Mutation	SNP	G	G	T	rs61758333		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31340609G>T	uc002ebq.2	+	24	2951	c.2853G>T	c.(2851-2853)ATG>ATT	p.M951I	ITGAM_uc002ebr.2_Missense_Mutation_p.M952I|ITGAM_uc010can.2_Missense_Mutation_p.M357I	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	951	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GTCGGGTCATGCAGCATCAAT	0.502		NA											7	16					1.07e-07	2.07e-07	1	0
PRSS54	221191	broad.mit.edu	37	16	58325037	58325037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58325037C>T	uc002enf.2	-	4	484	c.89G>A	c.(88-90)TGT>TAT	p.C30Y	PRSS54_uc002eng.2_Missense_Mutation_p.C30Y|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	30					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CTGGACGCCACAACCTGCGGA	0.622		NA											11	24					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58568212	58568212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58568212G>A	uc002env.2	-	40	6027	c.5734C>T	c.(5734-5736)CGT>TGT	p.R1912C	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1907C|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Missense_Mutation_p.R869C	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1912					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGAGCACGGTAACTGATT	0.478		NA											9	37					0	0	0	0
CTCF	10664	broad.mit.edu	37	16	67660581	67660581	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:67660581G>T	uc002etl.2	+	8	1771	c.1481G>T	c.(1480-1482)CGC>CTC	p.R494L	CTCF_uc010cek.2_Missense_Mutation_p.R166L|CTCF_uc002etm.1_5'Flank	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	494					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AATGAGAAGCGCTTTAAGTGT	0.453		NA											10	38					4.69e-08	9.13e-08	1	0
CHST6	4166	broad.mit.edu	37	16	75513529	75513529	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:75513529G>C	uc002fef.2	-	3	378	c.198C>G	c.(196-198)GTC>GTG	p.V66V	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.V66V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	66	Lumenal (Potential).		V -> L (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TTAGGTAGAAGACGTCGGGGT	0.687		NA											14	37					0	0	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353779	77353779	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:77353779C>G	uc002ffc.3	-	16	2918	c.2499G>C	c.(2497-2499)GCG>GCC	p.A833A	ADAMTS18_uc010chc.1_Silent_p.A421A|ADAMTS18_uc002ffe.1_Silent_p.A529A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGGGCCCTGGCGCGTACAGAC	0.542		NA											17	74					0	0	0	0
CMIP	80790	broad.mit.edu	37	16	81712034	81712034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:81712034G>C	uc002fgp.2	+	10	1261	c.1189G>C	c.(1189-1191)GTG>CTG	p.V397L	CMIP_uc002fgq.1_Missense_Mutation_p.V303L|CMIP_uc010vnq.1_Missense_Mutation_p.V210L|CMIP_uc002fgr.1_Missense_Mutation_p.V244L	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	363						cytoplasm|nucleus					0						GTCGGTGGTCGTGGCCTCCAG	0.662		NA											6	7					0	0	0	0
ZC3H18	124245	broad.mit.edu	37	16	88688786	88688786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88688786A>T	uc002fky.2	+	9	1857	c.1657A>T	c.(1657-1659)AAT>TAT	p.N553Y	ZC3H18_uc010voz.1_Missense_Mutation_p.N577Y|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	553	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCTGCCTCTAATTCCTCCAG	0.622		NA											4	21					0	0	0	0
GALNS	2588	broad.mit.edu	37	16	88884501	88884501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88884501T>A	uc002fly.3	-	13	1485	c.1396A>T	c.(1396-1398)AGC>TGC	p.S466C	GALNS_uc002flx.2_RNA|GALNS_uc010cid.2_Missense_Mutation_p.S472C|GALNS_uc002flz.3_Missense_Mutation_p.S149C	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	466						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGATCCTGCTGAGGGCCTCC	0.667		NA											3	14					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:7578413C>T	uc002gim.2	-	5	711	c.517G>A	c.(517-519)GTG>ATG	p.V173M	TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	173	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	51					0	0	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676237	9676237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:9676237C>A	uc010vvb.1	-	5	577	c.577G>T	c.(577-579)GCT>TCT	p.A193S	DHRS7C_uc010cof.2_Missense_Mutation_p.A192S	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	193						extracellular region	binding|oxidoreductase activity				0						TTGGAGGCAGCGTCTGCGAGA	0.617		NA											7	23					2.01e-06	3.72e-06	1	0
RNF135	84282	broad.mit.edu	37	17	29326072	29326072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29326072G>T	uc002hfz.2	+	5	1298	c.1162G>T	c.(1162-1164)GCC>TCC	p.A388S	RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	ring finger protein 135 isoform 1	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		skin(2)	2		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGGAAAGCTTGCCTTCTATTC	0.527		NA											7	96					2.01e-06	3.72e-06	1	0
SRCIN1	80725	broad.mit.edu	37	17	36720486	36720486	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:36720486A>G	uc002hqd.2	-	4	634	c.409T>C	c.(409-411)TCC>CCC	p.S137P	SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_5'UTR|SRCIN1_uc002hqh.1_Missense_Mutation_p.S197P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GAGGCGTAGGACAGCTTTGCC	0.687		NA											3	5					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37884229	37884229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:37884229C>T	uc002hso.2	+	27	3938	c.3700C>T	c.(3700-3702)CCC>TCC	p.P1234S	ERBB2_uc002hsm.2_Missense_Mutation_p.P1204S|ERBB2_uc010cwa.2_Missense_Mutation_p.P1219S|ERBB2_uc002hsp.2_Missense_Mutation_p.P1037S|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P958S	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1234	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGGGCTCCACCCAGCACCTT	0.632		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			12	68					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40933194	40933194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:40933194A>G	uc002ibj.2	+	1	499	c.478A>G	c.(478-480)ATG>GTG	p.M160V	WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	160					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGGAGGACATGGAGACCCA	0.627		NA											19	49					0	0	0	0
MRPL10	124995	broad.mit.edu	37	17	45901757	45901757	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:45901757C>T	uc002ilz.2	-	5	626	c.600G>A	c.(598-600)CTG>CTA	p.L200L	OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Silent_p.L161L|MRPL10_uc002ily.2_Silent_p.L210L	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	200					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						GCACCAGGGGCAGGCTGGGGA	0.617		NA											21	41					0	0	0	0
COL1A1	1277	broad.mit.edu	37	17	48268775	48268775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:48268775G>A	uc002iqm.2	-	32	2330	c.2204C>T	c.(2203-2205)GCA>GTA	p.A735V		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	735	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	AAGACCAGCTGCACCACGTTC	0.597		NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						25	67					0	0	0	0
KIF2B	84643	broad.mit.edu	37	17	51901021	51901021	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:51901021G>C	uc002iua.2	+	1	783	c.627G>C	c.(625-627)CCG>CCC	p.P209P	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TGGAGCCCCCGCAAGAACATC	0.537		NA											10	58					0	0	0	0
ABCA10	10349	broad.mit.edu	37	17	67218001	67218001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:67218001A>G	uc010dfa.1	-	6	1114	c.235T>C	c.(235-237)TAC>CAC	p.Y79H	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	79					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TTTGCCAAGTAACAAAAAATT	0.338		NA											7	14					0	0	0	0
CCDC40	55036	broad.mit.edu	37	17	78011950	78011950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:78011950G>C	uc010dht.2	+	2	85	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Missense_Mutation_p.E20Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGGCTTCTGAGGGAGAGAA	0.418		NA											5	35					0	0	0	0
NPLOC4	55666	broad.mit.edu	37	17	79564324	79564324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79564324C>A	uc002kat.3	-	10	1122	c.940G>T	c.(940-942)GAC>TAC	p.D314Y	NPLOC4_uc002kau.3_Missense_Mutation_p.D314Y|NPLOC4_uc010wur.1_Missense_Mutation_p.D153Y	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	314					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGACGAGGTCTGTAAATATC	0.388		NA											16	74					3.53e-06	6.46e-06	1	0
NPLOC4	55666	broad.mit.edu	37	17	79589283	79589283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79589283G>A	uc002kat.3	-	3	300	c.118C>T	c.(118-120)CAA>TAA	p.Q40*	NPLOC4_uc002kau.3_Nonsense_Mutation_p.Q40*|NPLOC4_uc010wur.1_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	40					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCATTATTTTGGAAGCCAAAC	0.388		NA											9	77					0	0	0	0
LPIN2	9663	broad.mit.edu	37	18	2937737	2937737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:2937737G>A	uc002klo.2	-	7	1360	c.1121C>T	c.(1120-1122)TCA>TTA	p.S374L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	374					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTGGATTCTGAGGGCGCCTC	0.463		NA											20	74					0	0	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890361	5890361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:5890361G>T	uc002kmx.1	-	1	1743	c.1702C>A	c.(1702-1704)CTG>ATG	p.L568M		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	568						integral to membrane					0						TCCGCACCCAGAACGGGGGCG	0.652		NA											14	47					7.93e-07	1.49e-06	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21751402	21751402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:21751402G>C	uc002kve.2	-	23	2436	c.2262C>G	c.(2260-2262)CAC>CAG	p.H754Q	OSBPL1A_uc002kvd.2_Missense_Mutation_p.H241Q|OSBPL1A_uc010xbc.1_Missense_Mutation_p.H372Q	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	754					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCAACTTTGTGTAATTCCT	0.294		NA											31	71					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31226289	31226289	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:31226289G>A	uc010dmg.1	+	4	382	c.327G>A	c.(325-327)GAG>GAA	p.E109E	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATATGGCCGAGGCAAATGCCC	0.383		NA											17	45					0	0	0	0
MAPK4	5596	broad.mit.edu	37	18	48190452	48190452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:48190452G>A	uc002lev.2	+	2	1124	c.124G>A	c.(124-126)GCC>ACC	p.A42T	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A42T	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	42	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGACAGCCGGGCCTGCCGGAA	0.612		NA											14	48					0	0	0	0
DOK6	220164	broad.mit.edu	37	18	67406203	67406203	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:67406203T>C	uc002lkl.2	+	6	792	c.602T>C	c.(601-603)ATG>ACG	p.M201T		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	201	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCACAGAATGTGTGACACA	0.453		NA											30	77					0	0	0	0
C19orf35	374872	broad.mit.edu	37	19	2276353	2276353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:2276353C>T	uc002lvn.2	-	4	848	c.748G>A	c.(748-750)GCA>ACA	p.A250T	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	250										pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCACTGCGCCTCTCCAG	0.711		NA											7	16					0	0	0	0
MRPL54	116541	broad.mit.edu	37	19	3762721	3762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3762721G>T	uc002lyq.3	+	1	57	c.23G>T	c.(22-24)GGG>GTG	p.G8V	APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54 precursor	8						mitochondrion|ribosome					0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTTTTCGGGGCTACCCGG	0.627		NA											22	92					4.27e-12	8.8e-12	1	0
MATK	4145	broad.mit.edu	37	19	3784203	3784203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3784203C>A	uc002lyt.2	-	5	681	c.281G>T	c.(280-282)AGT>ATT	p.S94I	MATK_uc002lyv.2_Missense_Mutation_p.S95I|MATK_uc002lyu.2_Missense_Mutation_p.S53I|MATK_uc010dtq.2_Missense_Mutation_p.S94I	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	94	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGTCCACTGGTGTGGTG	0.692		NA											23	57					4.27e-12	8.8e-12	1	0
PTPRS	5802	broad.mit.edu	37	19	5222178	5222178	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5222178T>A	uc002mbv.2	-	19	3391	c.3157A>T	c.(3157-3159)AGC>TGC	p.S1053C	PTPRS_uc002mbu.1_Missense_Mutation_p.S622C|PTPRS_uc010xin.1_Missense_Mutation_p.S622C|PTPRS_uc002mbw.2_Missense_Mutation_p.S1031C|PTPRS_uc002mbx.2_Missense_Mutation_p.S626C|PTPRS_uc002mby.2_Missense_Mutation_p.S622C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1053	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACTCCCAGCTGAGCAGAACT	0.507		NA											26	71					0	0	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518437	7518437	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:7518437A>T	uc002mgi.2	+	7	1629	c.1376A>T	c.(1375-1377)GAG>GTG	p.E459V	ARHGEF18_uc010xjm.1_Missense_Mutation_p.E301V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.E301V|ARHGEF18_uc002mgj.1_Missense_Mutation_p.E102V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				AAGGTCAGTGAGTGTGAGAAG	0.542		NA											27	76					0	0	0	0
CARM1	10498	broad.mit.edu	37	19	11032327	11032328	+	Missense_Mutation	DNP	CG	CG	TT	rs139191688	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032327_11032328CG>TT	uc002mpz.2	+	16	1847_1848	c.1721_1722CG>TT	c.(1720-1722)ACG>ATT	p.T574I	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.T334I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GGTGGCAGCACGAGTGCCCACT	0.673		NA											19	62					0	0	0	0
ZNF44	51710	broad.mit.edu	37	19	12384496	12384496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12384496C>A	uc010xmj.1	-	5	923	c.718G>T	c.(718-720)GGT>TGT	p.G240C	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.G192C	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCATCTCCACCTTTTACTACC	0.403		NA											28	60					4.88e-14	1.02e-13	1	0
DNASE2	1777	broad.mit.edu	37	19	12991695	12991695	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12991695C>G	uc002mvn.1	-	3	414	c.268_splice	c.e3-1	p.L90_splice	DNASE2_uc010xmr.1_Splice_Site_p.L90_splice	NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor						apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0						GGAAGGCGAGCTGCGGGCGGA	0.632		NA						Direct_reversal_of_damage					14	72					0	0	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770178	15770178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:15770178G>C	uc002nbj.2	+	13	1596	c.1546G>C	c.(1546-1548)GTG>CTG	p.V516L	CYP4F3_uc010xok.1_Missense_Mutation_p.V516L|CYP4F3_uc010xol.1_Missense_Mutation_p.V516L|CYP4F3_uc010xom.1_Missense_Mutation_p.V367L|CYP4F3_uc002nbk.2_Missense_Mutation_p.V516L|CYP4F3_uc010xon.1_Missense_Mutation_p.V226L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	516					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						TTGGCTGCGGGTGGAGCCCCT	0.532		NA											6	25					0	0	0	0
MED26	9441	broad.mit.edu	37	19	16687968	16687968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:16687968C>T	uc002nen.1	-	3	934	c.673G>A	c.(673-675)GCC>ACC	p.A225T	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GGTCGCACGGCGTTGACGGGG	0.672		NA											16	48					0	0	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353084	33353084	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:33353084T>C	uc002ntv.3	-	6	761	c.644A>G	c.(643-645)CAG>CGG	p.Q215R	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.Q215R|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	215	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGACAGCTGGGCGCCCTC	0.537		NA											16	71					0	0	0	0
ZNF792	126375	broad.mit.edu	37	19	35449469	35449469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:35449469G>C	uc002nxh.1	-	4	1677	c.1290C>G	c.(1288-1290)TTC>TTG	p.F430L		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	430	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCTGAAGAATTTCCCAC	0.483		NA											29	71					0	0	0	0
HAUS5	23354	broad.mit.edu	37	19	36111009	36111009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36111009G>T	uc002oam.1	+	16	1553	c.1502G>T	c.(1501-1503)GGG>GTG	p.G501V		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	501					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CACAAGCTGGGGCTGCCTCCA	0.677		NA											42	83					1.63e-23	3.64e-23	1	0
CLIP3	25999	broad.mit.edu	37	19	36515346	36515346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36515346G>T	uc010eeq.1	-	6	1152	c.870C>A	c.(868-870)AGC>AGA	p.S290R	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.S290R	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	290					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGTGCGCTAAGCATGA	0.622		NA											22	47					3.88e-16	8.39e-16	1	0
HKR1	284459	broad.mit.edu	37	19	37838218	37838218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:37838218G>C	uc002ogb.2	+	4	486	c.217G>C	c.(217-219)GAA>CAA	p.E73Q	HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_Intron|HKR1_uc002ofz.2_Missense_Mutation_p.E54Q|HKR1_uc002oga.2_Missense_Mutation_p.E54Q|HKR1_uc010xto.1_Missense_Mutation_p.E54Q|HKR1_uc002ogc.2_Missense_Mutation_p.E54Q|HKR1_uc010xtp.1_Missense_Mutation_p.E12Q|HKR1_uc002ogd.2_Missense_Mutation_p.E12Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCACTGGGTAAGAATGG	0.522		NA											21	40					0	0	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913657	39913658	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913657_39913658CG>TT	uc010xuz.1	+	18	2288_2289	c.1963_1964CG>TT	c.(1963-1965)CGC>TTC	p.R655F	PLEKHG2_uc010xuy.1_Missense_Mutation_p.R596F|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.R433F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGGTTCTCGCCTTCCTAGT	0.53		NA											46	125					0	0	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:42312886G>A	uc002orn.1	+	3	536	c.460G>A	c.(460-462)GCC>ACC	p.A154T	CEACAM3_uc010eia.1_Missense_Mutation_p.A154T|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	154	Extracellular (Potential).					integral to membrane				skin(1)	1						GGGGGCCGTCGCCGGCATCGT	0.607		NA											7	250					0	0	0	0
PSG11	5680	broad.mit.edu	37	19	43519501	43519501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:43519501A>T	uc002ovm.1	-	4	838	c.731T>A	c.(730-732)ATT>AAT	p.I244N	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.I250N|PSG11_uc002ovo.1_Missense_Mutation_p.I122N|PSG11_uc002ovp.1_Missense_Mutation_p.I122N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	244	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGAAGGGAAAATTCTGGGGAG	0.478		NA											28	132					0	0	0	0
KLC3	147700	broad.mit.edu	37	19	45852823	45852823	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:45852823C>A	uc002pbf.1	+	8	1221	c.1106C>A	c.(1105-1107)CCC>CAC	p.P369H	KLC3_uc010ejy.1_Missense_Mutation_p.P368H|KLC3_uc002pbg.1_Missense_Mutation_p.P383H	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	369						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGCGGGCCCCATGACCCC	0.647		NA											13	33					4.75e-09	9.4e-09	1	0
TBC1D17	79735	broad.mit.edu	37	19	50390975	50390975	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:50390975G>T	uc002pqo.2	+	15	1695	c.1543G>T	c.(1543-1545)GTG>TTG	p.V515L	TBC1D17_uc010ybg.1_Missense_Mutation_p.V482L|TBC1D17_uc002pqp.2_Missense_Mutation_p.V166L|TBC1D17_uc002pqr.2_Missense_Mutation_p.V166L|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	515	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCACCCTCAGGTGCTGTGGAC	0.682		NA											8	23					0.000157383	0.000272033	1	0
SHANK1	50944	broad.mit.edu	37	19	51172432	51172432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51172432G>T	uc002psx.1	-	22	2804	c.2785C>A	c.(2785-2787)CCG>ACG	p.P929T	SHANK1_uc002psw.1_Missense_Mutation_p.P313T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCTCCGGTGGGGACGTG	0.667		NA									OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					3.6e-05	6.37e-05	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51650065	51650065	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51650065C>A	uc002pvv.1	+	5	1151	c.1082C>A	c.(1081-1083)GCC>GAC	p.A361D	SIGLEC7_uc002pvw.1_Missense_Mutation_p.A268D|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	361	Helical; (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGCTGGAGCCACAGCCCTG	0.577		NA											24	85					4.4e-07	8.38e-07	1	0
ZNF808	388558	broad.mit.edu	37	19	53058333	53058333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:53058333C>A	uc010epq.1	+	5	2341	c.2164C>A	c.(2164-2166)CTT>ATT	p.L722I	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	722	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGTCATCCCTTGTATGCCA	0.443		NA											7	265					0.00307968	0.00495559	1	0
NLRP12	91662	broad.mit.edu	37	19	54313274	54313275	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313274_54313275CG>TC	uc002qch.3	-	3	1858_1859	c.1638_1639CG>GA	c.(1636-1641)ACCGAG>ACGAAG	p.E547K	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E547K|NLRP12_uc002qcj.3_Missense_Mutation_p.E547K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E547K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	547					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACGCGTACTCGGTCAACAGCC	0.569		NA											44	86					0	0	0	0
CACNG6	59285	broad.mit.edu	37	19	54515287	54515287	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54515287G>T	uc002qct.2	+	4	1217	c.627G>T	c.(625-627)CCG>CCT	p.P209P	CACNG6_uc002qcu.2_Silent_p.P163P|CACNG6_uc002qcv.2_Silent_p.P138P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	209						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692		NA											15	60					3.41e-10	6.92e-10	1	0
CNOT3	4849	broad.mit.edu	37	19	54646740	54646740	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54646740G>T	uc002qdj.1	+	2	336	c.25_splice	c.e2+1	p.G9_splice	CNOT3_uc010yel.1_Splice_Site_p.G9_splice|CNOT3_uc002qdi.2_Splice_Site|CNOT3_uc002qdk.1_Splice_Site_p.G9_splice|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAACTCCAAGGTACTAGACTG	0.537		NA											20	81					1.96e-10	4e-10	1	0
PEG3	5178	broad.mit.edu	37	19	57328850	57328850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:57328850C>G	uc002qnu.2	-	7	1311	c.960G>C	c.(958-960)AAG>AAC	p.K320N	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K291N|PEG3_uc002qnv.2_Missense_Mutation_p.K320N|PEG3_uc002qnw.2_Missense_Mutation_p.K196N|PEG3_uc002qnx.2_Missense_Mutation_p.K194N|PEG3_uc010etr.2_Missense_Mutation_p.K320N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	320					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGACACATCCTTGATGAATT	0.463		NA											37	92					0	0	0	0
MYT1L	23040	broad.mit.edu	37	2	1796146	1796146	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:1796146T>C	uc002qxe.2	-	24	4194	c.3367A>G	c.(3367-3369)AAC>GAC	p.N1123D	MYT1L_uc002qxd.2_Missense_Mutation_p.N1121D|MYT1L_uc010ewk.2_Missense_Mutation_p.N121D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1123	Potential.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTCAGGTTCGCCAGCTCG	0.547		NA											5	12					0	0	0	0
RHOB	388	broad.mit.edu	37	2	20647664	20647664	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:20647664C>A	uc002rdv.2	+	1	830	c.438C>A	c.(436-438)GCC>GCA	p.A146A		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	146					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCCGCGCCATGGCCGTGC	0.662		NA											44	94					9.39e-22	2.08e-21	1	0
APOB	338	broad.mit.edu	37	2	21231924	21231924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:21231924C>T	uc002red.2	-	26	7944	c.7816G>A	c.(7816-7818)GCT>ACT	p.A2606T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2606					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTGAAGAGCCTGAAGACTG	0.418		NA											28	65					0	0	0	0
MAP4K3	8491	broad.mit.edu	37	2	39505576	39505576	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:39505576T>C	uc002rro.2	-	24	1857	c.1766A>G	c.(1765-1767)AAT>AGT	p.N589S	MAP4K3_uc002rrp.2_Missense_Mutation_p.N568S|MAP4K3_uc010yns.1_Missense_Mutation_p.N142S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	589	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				ATGAAGTTCATTAAGATTGAG	0.254		NA											3	22					0	0	0	0
COX7A2L	9167	broad.mit.edu	37	2	42580403	42580403	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:42580403C>A	uc002rsk.2	-	2	208	c.153G>T	c.(151-153)GTG>GTT	p.V51V	COX7A2L_uc002rsl.2_RNA	NM_004718	NP_004709	O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	51					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						CATAATCATACACTGTGGAAT	0.403		NA											16	57					2.23e-06	4.13e-06	1	0
ABCG8	64241	broad.mit.edu	37	2	44104829	44104829	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:44104829T>A	uc002rtq.2	+	12	1974	c.1884_splice	c.e12+2	p.K628_splice	ABCG8_uc010yoa.1_Splice_Site_p.K627_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGATAAAGTAAGCGGGGAA	0.507		NA									OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	81					0	0	0	0
FSHR	2492	broad.mit.edu	37	2	49189901	49189901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49189901C>G	uc002rww.2	-	10	2133	c.2059G>C	c.(2059-2061)GTC>CTC	p.V687L	FSHR_uc002rwx.2_Missense_Mutation_p.V625L|FSHR_uc010fbn.2_Missense_Mutation_p.V661L	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	687	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTAGAGGGACAAGTATGTAA	0.343		NA							Gonadal_Dysgenesis_46_XX				13	44					0	0	0	0
FSHR	2492	broad.mit.edu	37	2	49381534	49381534	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49381534A>G	uc002rww.2	-	1	97	c.23T>C	c.(22-24)TTG>TCG	p.L8S	FSHR_uc002rwx.2_Missense_Mutation_p.L8S|FSHR_uc010fbn.2_Missense_Mutation_p.L8S|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	8					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAATGCCAGCAAAGAGACCAG	0.488		NA							Gonadal_Dysgenesis_46_XX				9	45					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50780107	50780107	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780107T>A	uc010fbq.2	-	9	2974	c.1497A>T	c.(1495-1497)GGA>GGT	p.G499G	NRXN1_uc002rxb.3_Silent_p.G131G|NRXN1_uc002rxe.3_Silent_p.G459G|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTAGGATCTCCTTGCTTGG	0.408		NA											36	130					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50780123	50780123	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780123C>A	uc010fbq.2	-	9	2958	c.1481G>T	c.(1480-1482)CGA>CTA	p.R494L	NRXN1_uc002rxb.3_Missense_Mutation_p.R126L|NRXN1_uc002rxe.3_Missense_Mutation_p.R454L|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGCAAGTCGAGATAATTC	0.403		NA											32	137					6.85e-11	1.4e-10	1	0
DYSF	8291	broad.mit.edu	37	2	71795363	71795363	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:71795363C>A	uc002sie.2	+	26	3081	c.2705C>A	c.(2704-2706)CCC>CAC	p.P902H	DYSF_uc010feg.2_Missense_Mutation_p.P933H|DYSF_uc010feh.2_Missense_Mutation_p.P888H|DYSF_uc002sig.3_Missense_Mutation_p.P888H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P902H|DYSF_uc010fef.2_Missense_Mutation_p.P919H|DYSF_uc010fei.2_Missense_Mutation_p.P919H|DYSF_uc010fek.2_Missense_Mutation_p.P920H|DYSF_uc010fej.2_Missense_Mutation_p.P889H|DYSF_uc010fel.2_Missense_Mutation_p.P889H|DYSF_uc010feo.2_Missense_Mutation_p.P934H|DYSF_uc010fem.2_Missense_Mutation_p.P903H|DYSF_uc010fen.2_Missense_Mutation_p.P920H|DYSF_uc002sif.2_Missense_Mutation_p.P903H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	902	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTCACCTACCCCAAGTTTTCT	0.607		NA											67	227					2.02e-26	4.52e-26	1	0
CYP26B1	56603	broad.mit.edu	37	2	72361997	72361997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:72361997G>A	uc002sih.1	-	4	754	c.754C>T	c.(754-756)CGG>TGG	p.R252W	CYP26B1_uc010yra.1_Missense_Mutation_p.R235W|CYP26B1_uc010yrb.1_Missense_Mutation_p.R177W	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						AGCTTCTCCCGGATGGCCTTC	0.602		NA											18	36					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:73777441A>C	uc002sje.1	+	15	10069	c.9958A>C	c.(9958-9960)ACA>CCA	p.T3320P	ALMS1_uc002sjf.1_Missense_Mutation_p.T3276P|ALMS1_uc002sjg.2_Missense_Mutation_p.T2706P|ALMS1_uc002sjh.1_Missense_Mutation_p.T2706P|ALMS1_uc010fev.1_Intron	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GGTGCTAGGCACAAGAGATGA	0.438		NA											16	60					0	0	0	0
REG1B	5968	broad.mit.edu	37	2	79312665	79312665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:79312665G>C	uc002sny.2	-	5	498	c.386C>G	c.(385-387)CCG>CGG	p.P129R		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	129	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						AGCACTGCTCGGGGATCCAGT	0.557		NA											15	51					0	0	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554620	85554620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:85554620C>T	uc010fgd.1	-	2	524	c.235G>A	c.(235-237)GAC>AAC	p.D79N	TGOLN2_uc002soz.2_Missense_Mutation_p.D79N|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.D79N|TGOLN2_uc002spc.1_Missense_Mutation_p.D79N	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	79	Extracellular (Potential).|14 X 14 AA tandem repeats.|2.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						TTGGGGGTGTCTTCTGGGGTC	0.592		NA											127	378					0	0	0	0
FER1L5	90342	broad.mit.edu	37	2	97361322	97361322	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:97361322T>A	uc010fia.2	+	34	3899	c.3899T>A	c.(3898-3900)CTG>CAG	p.L1300Q	FER1L5_uc002sws.3_Missense_Mutation_p.L18Q|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.L18Q|FER1L5_uc010yus.1_Missense_Mutation_p.L18Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1300						integral to membrane				ovary(1)	1						GAAGAGTCCCTGAGGACAGAA	0.592		NA											4	10					0	0	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:113514482C>A	uc002tie.2	-	4	545	c.466G>T	c.(466-468)GAT>TAT	p.D156Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome					0						TTTCCTTGATCTGTTAACTGC	0.353		NA											15	68					0.000219431	0.00037828	1	0
ERCC3	2071	broad.mit.edu	37	2	128036885	128036885	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:128036885A>G	uc002toh.1	-	10	1689	c.1594T>C	c.(1594-1596)TTG>CTG	p.L532L	ERCC3_uc002toe.1_Silent_p.L287L|ERCC3_uc002tof.1_Silent_p.L468L|ERCC3_uc002tog.1_Silent_p.L468L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	532					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGTACAGCAAGATTCGTTTC	0.403		NA	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				10	38					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137814036G>T	uc002tva.1	+	2	93	c.93G>T	c.(91-93)CAG>CAT	p.Q31H	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498		NA											14	51					8.6e-14	1.8e-13	1	0
THSD7B	80731	broad.mit.edu	37	2	137852609	137852609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137852609A>G	uc002tva.1	+	3	1024	c.1024A>G	c.(1024-1026)ATT>GTT	p.I342V	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.I232V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACATGGCTATTGGAGGTGG	0.537		NA											12	41					0	0	0	0
ERMN	57471	broad.mit.edu	37	2	158178042	158178042	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158178042T>C	uc002tzh.2	-	3	858	c.596A>G	c.(595-597)GAT>GGT	p.D199G	ERMN_uc010zcj.1_Missense_Mutation_p.D93G|ERMN_uc010zck.1_Missense_Mutation_p.D179G|ERMN_uc002tzi.2_Missense_Mutation_p.D212G	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform b	199						cytoplasm|cytoskeleton				ovary(1)|skin(1)	2						TCGAACTtcatcttcatcatt	0.323		NA											6	110					0	0	0	0
ACVR1	90	broad.mit.edu	37	2	158594062	158594062	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158594062T>A	uc002tzm.3	-	12	1850	c.1511A>T	c.(1510-1512)AAA>ATA	p.K504I	ACVR1_uc002tzn.3_Missense_Mutation_p.K504I|ACVR1_uc010fog.2_Missense_Mutation_p.K504I	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	504	Cytoplasmic (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGTTTTCAATTTGTCGAGGGA	0.418		NA											8	46					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:160206241G>A	uc002uao.2	-	28	5193	c.4841C>T	c.(4840-4842)CCA>CTA	p.P1614L	BAZ2B_uc002uap.2_Missense_Mutation_p.P1578L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TAAAGCAAATGGATTTAAGCC	0.433		NA											7	36					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179411788	179411788	+	Silent	SNP	A	A	T	rs138888307	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411788A>T	uc010zfg.1	-	289	86984	c.86760T>A	c.(86758-86760)GCT>GCA	p.A28920A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A22615A|TTN_uc010zfi.1_Silent_p.A22548A|TTN_uc010zfj.1_Silent_p.A22423A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29847							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACACCTGCAGCATTGAGTG	0.393		NA											52	191					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179458745	179458745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179458745C>T	uc010zfg.1	-	246	50895	c.50671G>A	c.(50671-50673)GTG>ATG	p.V16891M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10586M|TTN_uc010zfi.1_Missense_Mutation_p.V10519M|TTN_uc010zfj.1_Missense_Mutation_p.V10394M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACAACCACACAGTATTTG	0.403		NA											43	147					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179571433	179571433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179571433C>A	uc010zfg.1	-	99	25660	c.25436G>T	c.(25435-25437)GGT>GTT	p.G8479V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5140V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9406							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGGGTCACCTCCAACTTT	0.368		NA											31	98					2.85e-18	6.23e-18	1	0
TTN	7273	broad.mit.edu	37	2	179581892	179581892	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179581892G>T	uc010zfg.1	-	85	22061	c.21837C>A	c.(21835-21837)GCC>GCA	p.A7279A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3940A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8206							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACTGCCCGGCATCGCCTT	0.483		NA											19	41					5.35e-07	1.02e-06	1	0
TTN	7273	broad.mit.edu	37	2	179595724	179595724	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179595724T>A	uc010zfg.1	-	57	14160	c.13936A>T	c.(13936-13938)AGT>TGT	p.S4646C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1307C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCTCCACTATCTTTCTTT	0.378		NA											58	168					0	0	0	0
GTF3C3	9330	broad.mit.edu	37	2	197650199	197650199	+	Missense_Mutation	SNP	T	T	C	rs138093114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:197650199T>C	uc002uts.2	-	7	1097	c.1007A>G	c.(1006-1008)TAT>TGT	p.Y336C	GTF3C3_uc010zgu.1_Missense_Mutation_p.Y336C|GTF3C3_uc002utu.2_Missense_Mutation_p.Y336C|GTF3C3_uc002utt.3_Missense_Mutation_p.Y11C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	336	TPR 6.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						GTTAGAAATATATAGTTCAGC	0.358		NA											8	33					0	0	0	0
WDR12	55759	broad.mit.edu	37	2	203747437	203747437	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:203747437T>C	uc002uzl.2	-	12	1941	c.1191A>G	c.(1189-1191)ACA>ACG	p.T397T	WDR12_uc010ftt.2_Intron	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	397	Sufficient for nucleolar localization.|WD 7.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TTCTTACCCCTGTGTCTGTCC	0.308		NA											3	103					0	0	0	0
INO80D	54891	broad.mit.edu	37	2	206869167	206869167	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:206869167A>G	uc002vaz.3	-	11	3414	c.3009T>C	c.(3007-3009)CCT>CCC	p.P1003P		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	Error:Variant_position_missing_in_Q53TQ3_after_alignment					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						TGAAGCCTGTAGGAGGGGCTA	0.547		NA											3	11					0	0	0	0
MDH1B	130752	broad.mit.edu	37	2	207620218	207620218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207620218G>A	uc002vbs.2	-	5	480	c.425C>T	c.(424-426)CCT>CTT	p.P142L	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.P142L|MDH1B_uc010fuj.2_Missense_Mutation_p.P44L|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	142					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAGCAGGCAGGAGCAGAGGC	0.398		NA											21	51					0	0	0	0
CPO	130749	broad.mit.edu	37	2	207834010	207834010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207834010G>T	uc002vby.2	+	9	1021	c.975G>T	c.(973-975)CAG>CAT	p.Q325H		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	325					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGAAGCTCAGATCCAGCCCA	0.527		NA											12	48					1.09e-07	2.09e-07	1	0
SLC4A3	6508	broad.mit.edu	37	2	220501488	220501488	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:220501488C>T	uc002vmp.3	+	16	2696	c.2427C>T	c.(2425-2427)GCC>GCT	p.A809A	SLC4A3_uc002vmo.3_Silent_p.A836A|SLC4A3_uc010fwm.2_Silent_p.A359A|SLC4A3_uc010fwn.1_Silent_p.A318A	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	809	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGGTGGCCGCCGAAGGCA	0.582		NA											31	97					0	0	0	0
NMUR1	10316	broad.mit.edu	37	2	232390111	232390111	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:232390111G>C	uc002vry.3	-	3	1034	c.924C>G	c.(922-924)ATC>ATG	p.I308M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	308	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCCCAGCAGATGCCAAACA	0.657		NA											7	36					0	0	0	0
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:233246046C>T	uc002vsq.2	+	10	1443	c.1278C>T	c.(1276-1278)GGC>GGT	p.G426G	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697		NA											10	33					0	0	0	0
C2orf54	79919	broad.mit.edu	37	2	241831032	241831032	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:241831032G>T	uc002wae.3	-	2	822	c.663C>A	c.(661-663)CCC>CCA	p.P221P	C2orf54_uc002wac.2_Silent_p.P53P|C2orf54_uc002wad.2_Silent_p.P72P	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	221											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CAGGGAATCCGGGCATCTGCT	0.657		NA											32	93					9.04e-19	1.99e-18	1	0
SRXN1	140809	broad.mit.edu	37	20	629443	629443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:629443C>A	uc002wea.2	-	2	390	c.329G>T	c.(328-330)CGA>CTA	p.R110L	SRXN1_uc002web.2_RNA	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1 homolog	110					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			ovary(1)	1						GATGGTCTCTCGCTGCAGTTG	0.607		NA											27	77					2.45e-14	5.18e-14	1	0
SNPH	9751	broad.mit.edu	37	20	1285985	1285985	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:1285985C>A	uc002wes.2	+	6	1008	c.772C>A	c.(772-774)CTG>ATG	p.L258M	SNPH_uc002wet.2_Missense_Mutation_p.L302M	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	258					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GACGGACGCGCTGGAAGCCAG	0.682		NA											23	49					1.85e-09	3.71e-09	1	0
TGM3	7053	broad.mit.edu	37	20	2312716	2312716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2312716G>A	uc002wfx.3	+	10	1499	c.1402G>A	c.(1402-1404)GCG>ACG	p.A468T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GCCATTTGCCGCGACGTCTTC	0.517		NA											6	60					0	0	0	0
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	C	rs140423684		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2321165G>C	uc002wfx.3	+	13	2117	c.2020G>C	c.(2020-2022)GAC>CAC	p.D674H		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602		NA											29	72					0	0	0	0
IDH3B	3420	broad.mit.edu	37	20	2640691	2640691	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2640691G>A	uc002wgp.2	-	9	909	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	IDH3B_uc002wgq.2_Silent_p.Y300Y|IDH3B_uc002wgr.2_Silent_p.Y148Y	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	300					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CAAAGACTGCGTATTCTGCAC	0.532		NA											28	109					0	0	0	0
MAVS	57506	broad.mit.edu	37	20	3841990	3841990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:3841990C>T	uc002wjw.3	+	4	473	c.304C>T	c.(304-306)CGT>TGT	p.R102C	MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	102	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GACCTCGGACCGTCCCCCAGA	0.453		NA											22	64					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:8737765C>A	uc002wnb.2	+	24	2599	c.2596C>A	c.(2596-2598)CAC>AAC	p.H866N	PLCB1_uc010zrb.1_Missense_Mutation_p.H765N|PLCB1_uc002wna.2_Missense_Mutation_p.H866N|PLCB1_uc002wnc.1_Missense_Mutation_p.H765N|PLCB1_uc002wnd.1_Missense_Mutation_p.H443N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	866					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGGGGTGAATCACACTACAAC	0.498		NA											24	34					1.85e-09	3.71e-09	1	0
GZF1	64412	broad.mit.edu	37	20	23345471	23345471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:23345471G>T	uc010gdb.2	+	3	625	c.451G>T	c.(451-453)GTG>TTG	p.V151L	GZF1_uc002wsy.2_Missense_Mutation_p.V151L|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.V151L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	151					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGAGGTGGAGGTGAGCAGTGG	0.493		NA											19	58					6.94e-10	1.4e-09	1	0
TMEM90B	79953	broad.mit.edu	37	20	24524045	24524045	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:24524045C>A	uc002wtw.1	+	2	945	c.312C>A	c.(310-312)GAC>GAA	p.D104E		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	104	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CCTGGGGGGACGGTGTGGCCG	0.632		NA											25	61					2.8e-10	5.7e-10	1	0
CHD6	84181	broad.mit.edu	37	20	40118659	40118659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:40118659T>C	uc002xka.1	-	12	1617	c.1439A>G	c.(1438-1440)AAA>AGA	p.K480R	CHD6_uc002xkd.2_Missense_Mutation_p.K458R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	480	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AATACAGTTTTTTCTGCAGAG	0.378		NA											51	112					0	0	0	0
NFATC2	4773	broad.mit.edu	37	20	50140492	50140492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:50140492C>G	uc002xwd.2	-	2	508	c.288G>C	c.(286-288)AAG>AAC	p.K96N	NFATC2_uc002xwc.2_Missense_Mutation_p.K96N|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.K76N|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.K76N	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	96					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CGCTCAGAAACTTCTGCGGCC	0.657		NA											13	57					0	0	0	0
SPO11	23626	broad.mit.edu	37	20	55909825	55909825	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:55909825T>C	uc002xye.2	+	6	623	c.530T>C	c.(529-531)TTA>TCA	p.L177S	SPO11_uc002xyf.2_Missense_Mutation_p.L139S	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	177					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAAAGGTTTAATTGCTGGC	0.363		NA						Editing_and_processing_nucleases					8	23					0	0	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768471	31768471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:31768471G>A	uc002yoa.2	+	1	80	c.67G>A	c.(67-69)GCC>ACC	p.A23T		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament				ovary(1)	1						GCACTACCCAGCCTCCTCCTG	0.567		NA											60	95					0	0	0	0
SON	6651	broad.mit.edu	37	21	34927512	34927512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:34927512G>A	uc002yse.1	+	3	6024	c.5975G>A	c.(5974-5976)AGC>AAC	p.S1992N	SON_uc002ysb.1_Missense_Mutation_p.S1992N|SON_uc002ysc.2_Missense_Mutation_p.S1992N|SON_uc002ysd.2_Missense_Mutation_p.S983N|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S983N	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1992	2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						agccgtcggagccgcacccca	0.179		NA											16	39					0	0	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265101	41265101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41265101C>T	uc003azh.2	+	2	255	c.163C>T	c.(163-165)CCA>TCA	p.P55S	XPNPEP3_uc011aox.1_Missense_Mutation_p.P55S|XPNPEP3_uc003azi.2_5'UTR|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	55					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						CTTTACACACCCACACCTCCT	0.423		NA											27	92					0	0	0	0
RBX1	9978	broad.mit.edu	37	22	41349628	41349628	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41349628A>G	uc003azk.2	+	2	166	c.148A>G	c.(148-150)ATG>GTG	p.M50V	XPNPEP3_uc011aoy.1_RNA	NM_014248	NP_055063	P62877	RBX1_HUMAN	ring-box 1	50					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			skin(1)	1						GAACCACATTATGGATCTTTG	0.453		NA											22	86					0	0	0	0
UPK3A	7380	broad.mit.edu	37	22	45689060	45689060	+	Splice_Site	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:45689060A>T	uc003bfy.2	+	5	578	c.572_splice	c.e5-2	p.L191_splice	UPK3A_uc010gzy.2_Splice_Site_p.V70_splice	NM_006953	NP_008884	O75631	UPK3A_HUMAN	uroplakin 3A precursor						epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCACCACAGTCACCCCAT	0.657		NA											11	34					0	0	0	0
C3orf20	84077	broad.mit.edu	37	3	14769945	14769945	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:14769945G>T	uc003byy.2	+	12	2095	c.1691_splice	c.e12-1	p.G564_splice	C3orf20_uc003byz.2_Splice_Site_p.G442_splice|C3orf20_uc003bza.2_Splice_Site_p.G442_splice|C3orf20_uc003bzb.1_Splice_Site_p.G65_splice	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077							cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TCTGTTAACAGGTCTGTTTAC	0.507		NA											19	35					1.34e-09	2.69e-09	1	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:32031962A>G	uc011axg.1	+	2	1940	c.1391A>G	c.(1390-1392)CAT>CGT	p.H464R		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGACCTTCCATCACAATTCA	0.418		NA											3	59					0	0	0	0
EPHA6	285220	broad.mit.edu	37	3	96533514	96533514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:96533514A>T	uc010how.1	+	1	90	c.47A>T	c.(46-48)CAG>CTG	p.Q16L	EPHA6_uc003drp.1_Missense_Mutation_p.Q16L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CCGGCGCCGCAGGCAGCGTCC	0.711		NA											14	24					0	0	0	0
EPHA6	285220	broad.mit.edu	37	3	97439201	97439201	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:97439201T>A	uc010how.1	+	15	2924	c.2881T>A	c.(2881-2883)TGG>AGG	p.W961R	EPHA6_uc003drt.2_Missense_Mutation_p.W353R|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	866	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CATTGTCATGTGGGAGGTCAT	0.463		NA											16	60					0	0	0	0
DPPA4	55211	broad.mit.edu	37	3	109049491	109049491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:109049491C>A	uc003dxq.3	-	5	614	c.559G>T	c.(559-561)GAG>TAG	p.E187*	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.E187*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	187						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTAACTCCCTCAAGGAGAGCA	0.577		NA											20	75					8.01e-06	1.45e-05	1	0
POLQ	10721	broad.mit.edu	37	3	121208845	121208845	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:121208845T>C	uc003eee.3	-	16	3062	c.2933A>G	c.(2932-2934)CAA>CGA	p.Q978R	POLQ_uc003eed.2_Missense_Mutation_p.Q150R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	978					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTGATGTTCTTGATTCCCATT	0.353		NA						DNA_polymerases_(catalytic_subunits)					16	44					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130287207	130287207	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:130287207C>A	uc010htl.2	+	5	2191	c.2160C>A	c.(2158-2160)CCC>CCA	p.P720P		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	720	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCGCCCGGCCCAACATCAGAA	0.498		NA											32	95					1.62e-16	3.51e-16	1	0
ATR	545	broad.mit.edu	37	3	142184024	142184024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:142184024C>T	uc003eux.3	-	41	7078	c.6956G>A	c.(6955-6957)GGA>GAA	p.G2319E	ATR_uc003euy.1_Missense_Mutation_p.G205E	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2319					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GTAGAACTTTCCATCTGAGCC	0.333		NA						Other_conserved_DNA_damage_response_genes					8	24					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173997383	173997383	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:173997383A>G	uc003fio.1	+	6	2015	c.1592A>G	c.(1591-1593)AAT>AGT	p.N531S	NLGN1_uc010hww.1_Missense_Mutation_p.N571S|NLGN1_uc003fip.1_Missense_Mutation_p.N531S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	548	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCTCCAAAAATGATGTGATG	0.403		NA											11	62					0	0	0	0
LSG1	55341	broad.mit.edu	37	3	194365325	194365325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:194365325C>T	uc003fui.2	-	13	2089	c.1774G>A	c.(1774-1776)GTT>ATT	p.V592I		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	592					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTTTGTCAACGATATTTTCA	0.328		NA											9	42					0	0	0	0
WHSC1	7468	broad.mit.edu	37	4	1936943	1936943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:1936943A>T	uc003gdz.3	+	7	1804	c.1628A>T	c.(1627-1629)GAC>GTC	p.D543V	WHSC1_uc003geb.3_Missense_Mutation_p.D543V|WHSC1_uc003gec.3_Missense_Mutation_p.D543V|WHSC1_uc003ged.3_Missense_Mutation_p.D543V|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.D543V|WHSC1_uc010icd.1_Missense_Mutation_p.D543V|WHSC1_uc003gea.1_Missense_Mutation_p.D543V|WHSC1_uc010ice.1_Missense_Mutation_p.D543V|WHSC1_uc003geh.1_Missense_Mutation_p.D543V	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	543					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGCTGAGGACACACCCAGG	0.458		NA	T	IGH@	MM								15	39					0	0	0	0
ABLIM2	84448	broad.mit.edu	37	4	8037890	8037890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:8037890G>A	uc003gko.2	-	10	1176	c.1033C>T	c.(1033-1035)CAG>TAG	p.Q345*	ABLIM2_uc003gkl.2_Nonsense_Mutation_p.Q95*|ABLIM2_uc003gkj.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkm.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkp.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkq.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkr.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gks.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc011bwl.1_Nonsense_Mutation_p.Q350*	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	345					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CCGTAGCTCTGCCTGTCCCCT	0.592		NA											4	13					0	0	0	0
DCAF16	54876	broad.mit.edu	37	4	17805350	17805350	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:17805350C>A	uc003gpn.2	-	3	1476	c.415G>T	c.(415-417)GCC>TCC	p.A139S	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	139						CUL4 RING ubiquitin ligase complex				ovary(1)	1						TTTAGAGTGGCATGATCTCTA	0.488		NA											38	105					1.47e-15	3.16e-15	1	0
SGCB	6443	broad.mit.edu	37	4	52895030	52895030	+	Missense_Mutation	SNP	T	T	C	rs116157710	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:52895030T>C	uc003gzj.2	-	4	547	c.487A>G	c.(487-489)ACA>GCA	p.T163A	SGCB_uc011bzp.1_Missense_Mutation_p.T93A	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	163	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATGTCACTTGTAATAGAAGTT	0.343		NA											3	49					0	0	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190366	57190366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:57190366G>A	uc003hbk.2	+	10	3866	c.3475G>A	c.(3475-3477)GCA>ACA	p.A1159T	KIAA1211_uc010iha.2_Missense_Mutation_p.A1152T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1159										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCCCGAGACTGCAGTGTCCAG	0.547		NA											19	60					0	0	0	0
CCDC158	339965	broad.mit.edu	37	4	77303790	77303790	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:77303790C>A	uc003hkb.3	-	7	1040	c.887G>T	c.(886-888)AGT>ATT	p.S296I	CCDC158_uc003hkd.2_Missense_Mutation_p.S296I	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	296	Potential.									skin(3)|ovary(2)|pancreas(1)	6						ACTCTGGATACTATTGGCTTG	0.333		NA											12	38					0.00010058	0.000174776	1	0
HERC5	51191	broad.mit.edu	37	4	89414186	89414186	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:89414186G>A	uc003hrt.2	+	17	2310	c.2157G>A	c.(2155-2157)GGG>GGA	p.G719G	HERC5_uc011cdm.1_Silent_p.G357G	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	719	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGAAATTGGGTATGACCTCG	0.398		NA											12	50					0	0	0	0
MMRN1	22915	broad.mit.edu	37	4	90856410	90856410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:90856410T>A	uc003hst.2	+	6	1650	c.1579T>A	c.(1579-1581)TCA>ACA	p.S527T	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.S269T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	527					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAACAGGTATCAGACCAGAA	0.363		NA											18	62					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96140416	96140416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:96140416C>G	uc003htp.1	-	9	1503	c.1349G>C	c.(1348-1350)AGA>ACA	p.R450T	UNC5C_uc010ilc.1_Missense_Mutation_p.R469T|UNC5C_uc003htq.2_Missense_Mutation_p.R469T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	450	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GACAGGTCCTCTGTACATGGC	0.493		NA											84	224					0	0	0	0
ADH7	131	broad.mit.edu	37	4	100349102	100349102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:100349102G>T	uc003huv.1	-	5	527	c.428C>A	c.(427-429)ACA>AAA	p.T143K		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	143					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCCCTTGCATGTAAATCTGGT	0.403		NA											26	90					7.26e-15	1.54e-14	1	0
C4orf31	79625	broad.mit.edu	37	4	121957963	121957963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:121957963T>A	uc003idq.1	-	4	1690	c.1163A>T	c.(1162-1164)CAA>CTA	p.Q388L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	388											0						TCTTCTCACTTGGATTTGGAC	0.428		NA											29	71					0	0	0	0
GRIA2	2891	broad.mit.edu	37	4	158281238	158281238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:158281238G>T	uc003ipm.3	+	13	2693	c.2234G>T	c.(2233-2235)GGT>GTT	p.G745V	GRIA2_uc011cit.1_Missense_Mutation_p.G698V|GRIA2_uc003ipl.3_Missense_Mutation_p.G745V|GRIA2_uc003ipk.3_Missense_Mutation_p.G698V|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.G55V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.G55V|GRIA2_uc011ciy.1_Missense_Mutation_p.G55V|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	745	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGAAAGTTGGTGGAAACCTG	0.438		NA											14	56					2.32e-05	4.12e-05	1	0
FSTL5	56884	broad.mit.edu	37	4	162380450	162380450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:162380450G>C	uc003iqh.2	-	14	2066	c.1630C>G	c.(1630-1632)CCA>GCA	p.P544A	FSTL5_uc003iqi.2_Missense_Mutation_p.P543A|FSTL5_uc010iqv.2_Missense_Mutation_p.P534A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	544						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTTAACTGGGACAGGGTCT	0.378		NA											10	56					0	0	0	0
TKTL2	84076	broad.mit.edu	37	4	164393884	164393884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:164393884C>A	uc003iqp.3	-	1	1164	c.1003G>T	c.(1003-1005)GCA>TCA	p.A335S		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	335						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctttcatttgcacggcccagt	0.189		NA											32	105					1.63e-12	3.37e-12	1	0
CYP4V2	285440	broad.mit.edu	37	4	187120147	187120147	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187120147C>T	uc003iyw.3	+	6	1015	c.711C>T	c.(709-711)CCC>CCT	p.P237P		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	237					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TAAAGATGCCCTGGCTTTGGC	0.368		NA											15	55					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187629394	187629394	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187629394T>A	uc003izf.2	-	2	1776	c.1588A>T	c.(1588-1590)ATG>TTG	p.M530L	FAT1_uc010iso.1_Missense_Mutation_p.M530L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	530	Extracellular (Potential).|Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACCCGAGGCATCAGTTCGTAG	0.473		NA								HNSCC(5;0.00058)			24	65					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11082934	11082934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:11082934C>G	uc003jfa.1	-	16	2807	c.2662G>C	c.(2662-2664)GTC>CTC	p.V888L	CTNND2_uc010itt.2_Missense_Mutation_p.V797L|CTNND2_uc011cmy.1_Missense_Mutation_p.V551L|CTNND2_uc011cmz.1_Missense_Mutation_p.V455L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V480L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	888	ARM 8.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TCTTTTCGGACAGCGGCTCGG	0.532		NA											30	22					0	0	0	0
FGF10	2255	broad.mit.edu	37	5	44310549	44310549	+	Missense_Mutation	SNP	T	T	C	rs104893887		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:44310549T>C	uc003jog.1	-	2	409	c.409A>G	c.(409-411)AAG>GAG	p.K137E		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	137					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGTTTCCCCTTCTTGTTCATG	0.388		NA											9	38					0	0	0	0
NLN	57486	broad.mit.edu	37	5	65118660	65118660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:65118660G>T	uc003juf.2	+	13	2148	c.2032G>T	c.(2032-2034)GGC>TGC	p.G678C	NLN_uc003jug.2_Missense_Mutation_p.G507C|NLN_uc010iww.2_Missense_Mutation_p.G355C	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	678					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATCTCTGGACGGCATGGACAT	0.413		NA											28	42					7.26e-15	1.54e-14	1	0
CAMK4	814	broad.mit.edu	37	5	110819999	110819999	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:110819999G>A	uc011cvj.1	+	12	1356	c.1257G>A	c.(1255-1257)AAG>AAA	p.K419K	CAMK4_uc003kpf.2_Silent_p.K419K|CAMK4_uc010jbv.2_Silent_p.K222K|CAMK4_uc003kpg.2_Silent_p.K110K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	419					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTGCCCAAGGCAGTGGAGG	0.537		NA											15	35					0	0	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168241	140168241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140168241C>G	uc003lhb.2	+	1	2366	c.2366C>G	c.(2365-2367)CCA>CGA	p.P789R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P789R	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	789	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAACAACCAGAAGCAAAT	0.413		NA											5	13					0	0	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207985	140207985	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140207985C>T	uc003lho.2	+	1	336	c.309C>T	c.(307-309)AGC>AGT	p.S103S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S103S|PCDHA6_uc011dab.1_Silent_p.S103S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.587		NA											58	152					0	0	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346945	140346945	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140346945G>A	uc003lii.2	+	1	834	c.594G>A	c.(592-594)AAG>AAA	p.K198K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.K198K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	198	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTTAAGCCCCTGCAGG	0.612		NA											5	16					0	0	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719217	140719217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140719217C>T	uc003ljk.1	+	1	864	c.679C>T	c.(679-681)CGC>TGC	p.R227C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R227C	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	227	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCTCCCGCATCTGCGT	0.597		NA											14	47					0	0	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407522	148407522	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:148407522C>A	uc003lpu.2	-	11	1925	c.1773G>T	c.(1771-1773)CTG>CTT	p.L591L	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L235L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L138L|SH3TC2_uc010jgx.2_Silent_p.L584L|SH3TC2_uc003lpv.1_Silent_p.L138L|SH3TC2_uc011dbz.1_Silent_p.L476L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	591							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTTCCAACAGGGCGGAGC	0.562		NA											20	37					1.64e-05	2.93e-05	1	0
NSD1	64324	broad.mit.edu	37	5	176710803	176710803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:176710803G>A	uc003mfr.3	+	20	6163	c.6025G>A	c.(6025-6027)GCT>ACT	p.A2009T	NSD1_uc003mft.3_Missense_Mutation_p.A1740T|NSD1_uc011dfx.1_Missense_Mutation_p.A1657T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2009	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCATTGATGCTGGTCCCAA	0.443		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			26	72					0	0	0	0
OR2B2	81697	broad.mit.edu	37	6	27879226	27879226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:27879226G>A	uc011dkw.1	-	1	872	c.872C>T	c.(871-873)ACA>ATA	p.T291I		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTTCCTAAGTGTATATATAAG	0.398		NA											10	44					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28543800	28543800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:28543800T>A	uc003nlo.2	-	3	1300	c.682A>T	c.(682-684)AGA>TGA	p.R228*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	228					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTAAGCTTCTGAAGAACTTT	0.348		NA											8	50					0	0	0	0
C6orf222	389384	broad.mit.edu	37	6	36294357	36294357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:36294357C>T	uc003oly.2	-	5	1144	c.966G>A	c.(964-966)TGG>TGA	p.W322*		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	322										skin(2)|ovary(1)|breast(1)	4						TCTTGGGTGGCCAGGCCTCTG	0.572		NA											16	100					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38854730	38854730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:38854730C>A	uc003ooe.1	+	55	8372	c.7772C>A	c.(7771-7773)ACT>AAT	p.T2591N		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGACAATTTACTGTGTTTAAT	0.338		NA											12	25					4.37e-10	8.84e-10	1	0
POLH	5429	broad.mit.edu	37	6	43581937	43581937	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:43581937G>T	uc003ovq.3	+	11	2089	c.1785G>T	c.(1783-1785)ATG>ATT	p.M595I	POLH_uc010jyu.2_Missense_Mutation_p.M471I|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.M496I	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	595					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCAGAGATGGATTTGGCCC	0.488		NA						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				12	53					1.62e-10	3.31e-10	1	0
PHF3	23469	broad.mit.edu	37	6	64422632	64422632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:64422632A>T	uc003pep.1	+	15	5174	c.5148A>T	c.(5146-5148)TTA>TTT	p.L1716F	PHF3_uc003pen.2_Missense_Mutation_p.L1628F|PHF3_uc011dxs.1_Missense_Mutation_p.L985F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1716					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTGACAATTTAAAAGTTGCAC	0.373		NA											9	27					0	0	0	0
COL19A1	1310	broad.mit.edu	37	6	70861308	70861308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:70861308G>C	uc003pfc.1	+	31	2174	c.2057G>C	c.(2056-2058)GGA>GCA	p.G686A	COL19A1_uc010kam.1_Missense_Mutation_p.G582A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	686	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						CCTCTCTTGGGAGACATCGGT	0.308		NA											16	64					0	0	0	0
SNAP91	9892	broad.mit.edu	37	6	84375158	84375158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:84375158C>A	uc011dze.1	-	3	590	c.273G>T	c.(271-273)GAG>GAT	p.E91D	SNAP91_uc003pkb.2_Missense_Mutation_p.E56D|SNAP91_uc003pkc.2_Missense_Mutation_p.E91D|SNAP91_uc003pkd.2_Missense_Mutation_p.E91D|SNAP91_uc003pka.2_Missense_Mutation_p.E91D|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	91	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTAGTTTACCTCATTTCCAT	0.408		NA											53	136					2.84e-21	6.28e-21	1	0
HTR1E	3354	broad.mit.edu	37	6	87725251	87725251	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:87725251A>G	uc003pli.2	+	2	902	c.199A>G	c.(199-201)ACG>GCG	p.T67A		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTGGCCGTGACGGACCTCCT	0.557		NA											29	83					0	0	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572117	90572117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:90572117C>G	uc003pnr.2	+	7	885	c.689C>G	c.(688-690)TCT>TGT	p.S230C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.S230C|CASP8AP2_uc011dzz.1_Missense_Mutation_p.S230C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	230					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGTCACGTTCTCATTATCAG	0.393		NA											72	173					0	0	0	0
FUT9	10690	broad.mit.edu	37	6	96652001	96652001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:96652001G>C	uc003pop.3	+	3	1311	c.970G>C	c.(970-972)GTA>CTA	p.V324L		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	324	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTCACTGTAAATCTTCC	0.363		NA											15	29					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129802530	129802530	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:129802530G>A	uc003qbn.2	+	54	7800	c.7695G>A	c.(7693-7695)TTG>TTA	p.L2565L	LAMA2_uc003qbo.2_Silent_p.L2561L|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2565	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCTTTTGGGAAGTGGAG	0.478		NA											13	66					0	0	0	0
VNN1	8876	broad.mit.edu	37	6	133013716	133013716	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:133013716G>T	uc003qdo.2	-	5	854	c.834C>A	c.(832-834)GGC>GGA	p.G278G		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	278	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGCATAGATGCCACTTCCTG	0.358		NA											9	20					1.59e-06	2.97e-06	1	0
AHI1	54806	broad.mit.edu	37	6	135639745	135639745	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:135639745T>G	uc003qgi.2	-	26	3722	c.3338A>C	c.(3337-3339)CAA>CCA	p.Q1113P	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.Q563P|AHI1_uc003qgh.2_Missense_Mutation_p.Q1113P|AHI1_uc003qgj.2_Missense_Mutation_p.Q1113P|AHI1_uc003qgk.3_RNA	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	1113						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGCAGTTCTTGATACAGTGC	0.393		NA											3	9					0	0	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590672	136590672	+	Missense_Mutation	SNP	G	G	C	rs140624845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:136590672G>C	uc003qgx.1	-	9	2375	c.2122C>G	c.(2122-2124)CGG>GGG	p.R708G	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.R535G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R706G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R706G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	708					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATCTCCCCGTTCTTTACTT	0.388		NA											10	74					0	0	0	0
SHPRH	257218	broad.mit.edu	37	6	146262922	146262922	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146262922C>A	uc003qlf.2	-	10	2726	c.2327G>T	c.(2326-2328)CGT>CTT	p.R776L	SHPRH_uc003qld.2_Missense_Mutation_p.R776L|SHPRH_uc003qle.2_Missense_Mutation_p.R776L|SHPRH_uc003qlg.1_Missense_Mutation_p.R332L|SHPRH_uc003qlj.1_Missense_Mutation_p.R665L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	776	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATTCTGAACGCAGTACATC	0.418		NA											6	50					8.13e-05	0.000141619	1	0
SHPRH	257218	broad.mit.edu	37	6	146263002	146263002	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146263002T>G	uc003qlf.2	-	10	2646	c.2247A>C	c.(2245-2247)CAA>CAC	p.Q749H	SHPRH_uc003qld.2_Missense_Mutation_p.Q749H|SHPRH_uc003qle.2_Missense_Mutation_p.Q749H|SHPRH_uc003qlg.1_Missense_Mutation_p.Q305H|SHPRH_uc003qlj.1_Missense_Mutation_p.Q638H	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	749	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCACTCCTTGATATACCT	0.343		NA											3	30					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146720036	146720036	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146720036C>A	uc010khw.1	+	8	2331	c.1861C>A	c.(1861-1863)CCA>ACA	p.P621T	GRM1_uc010khv.1_Missense_Mutation_p.P621T|GRM1_uc003qll.2_Missense_Mutation_p.P621T|GRM1_uc011edz.1_Missense_Mutation_p.P621T|GRM1_uc011eea.1_Missense_Mutation_p.P621T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	621	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGGGACACACCAGTGGTCAA	0.483		NA											42	195					2.41e-17	5.22e-17	1	0
AKAP12	9590	broad.mit.edu	37	6	151673477	151673477	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:151673477T>A	uc011eep.1	+	4	4191	c.3951T>A	c.(3949-3951)GAT>GAA	p.D1317E	AKAP12_uc003qoe.2_Missense_Mutation_p.D1317E|AKAP12_uc003qof.2_Missense_Mutation_p.D1219E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D1212E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1317					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTAAAAAGGATGATGCTCTTG	0.478		NA											23	77					0	0	0	0
INTS1	26173	broad.mit.edu	37	7	1515969	1515969	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:1515969G>A	uc003skn.2	-	38	5375	c.5274C>T	c.(5272-5274)ATC>ATT	p.I1758I	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1758					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCGGGCCTGGATGAGGCTGC	0.687		NA											4	6					0	0	0	0
SFRP4	6424	broad.mit.edu	37	7	37953821	37953821	+	Missense_Mutation	SNP	T	T	C	rs112054297		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:37953821T>C	uc003tfo.3	-	3	972	c.586A>G	c.(586-588)AGC>GGC	p.S196G		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	196	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TTACCATAGCTGTAGTTTTTG	0.398		NA											16	32					0	0	0	0
ABCB4	5244	broad.mit.edu	37	7	87053332	87053332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:87053332G>T	uc003uiv.1	-	17	2177	c.2101C>A	c.(2101-2103)CTG>ATG	p.L701M	ABCB4_uc003uiw.1_Missense_Mutation_p.L701M|ABCB4_uc003uix.1_Missense_Mutation_p.L701M	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	701	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCAGTTTCAGGACCTTCAGA	0.413		NA											20	73					5.04e-11	1.03e-10	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966279	88966279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:88966279G>A	uc011khi.1	+	4	4521	c.3983G>A	c.(3982-3984)TGC>TAC	p.C1328Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1328						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCATTCTTGCTCTAGCCAG	0.393		NA								HNSCC(36;0.09)			16	58					0	0	0	0
CLDN12	9069	broad.mit.edu	37	7	90042423	90042423	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:90042423A>T	uc003ukp.2	+	5	1069	c.433A>T	c.(433-435)ACT>TCT	p.T145S	CLDN12_uc003ukq.2_Missense_Mutation_p.T145S|CLDN12_uc010leq.2_Missense_Mutation_p.T145S|CLDN12_uc003ukr.2_Missense_Mutation_p.T145S|CLDN12_uc003uks.2_Missense_Mutation_p.T145S	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	145	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CCTGGCAGGTACTGTGAGCCT	0.488		NA											10	110					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91724387	91724387	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:91724387T>G	uc003ulg.2	+	40	9854	c.9629T>G	c.(9628-9630)TTA>TGA	p.L3210*	AKAP9_uc003ulf.2_Nonsense_Mutation_p.L3202*|AKAP9_uc003uli.2_Nonsense_Mutation_p.L2833*|AKAP9_uc003ulj.2_Nonsense_Mutation_p.L980*|AKAP9_uc003ull.2_Nonsense_Mutation_p.L106*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3214	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGACACATTAGCAAGTGAA	0.388		NA	T	BRAF	papillary thyroid								4	45					0	0	0	0
SGCE	8910	broad.mit.edu	37	7	94259126	94259126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:94259126G>T	uc003unl.2	-	2	248	c.137C>A	c.(136-138)TCC>TAC	p.S46Y	SGCE_uc003unm.2_Missense_Mutation_p.S46Y|SGCE_uc003unn.2_Missense_Mutation_p.S46Y|SGCE_uc011kic.1_Intron|SGCE_uc011kid.1_Missense_Mutation_p.S82Y	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	46	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTCCGATCGGAGTGTACCTT	0.398		NA											10	81					0.000442599	0.00074528	1	0
CYP3A4	1576	broad.mit.edu	37	7	99358513	99358513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:99358513G>T	uc003urv.1	-	12	1449	c.1345C>A	c.(1345-1347)CTC>ATC	p.L449I	CYP3A4_uc003urw.1_Missense_Mutation_p.L448I|CYP3A4_uc011kiz.1_Missense_Mutation_p.L408I|CYP3A4_uc011kja.1_Missense_Mutation_p.L400I|CYP3A4_uc011kjb.1_Missense_Mutation_p.L299I	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	449					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATGTTCATGAGAGCAAACCTC	0.383		NA											36	85					6.06e-23	1.35e-22	1	0
RELN	5649	broad.mit.edu	37	7	103270558	103270558	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:103270558G>C	uc003vca.2	-	20	2691	c.2531C>G	c.(2530-2532)CCG>CGG	p.P844R	RELN_uc010liz.2_Missense_Mutation_p.P844R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	844					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAATGATACGGTTGCCACCA	0.363		NA											11	69					0	0	0	0
AASS	10157	broad.mit.edu	37	7	121756934	121756934	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:121756934T>A	uc003vka.2	-	6	861	c.765A>T	c.(763-765)GGA>GGT	p.G255G	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.G255G|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	255	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCCCTTACCTCCAGTTTGGG	0.328		NA											31	70					0	0	0	0
CADPS2	93664	broad.mit.edu	37	7	122221318	122221318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:122221318G>T	uc010lkp.2	-	7	1413	c.1250C>A	c.(1249-1251)ACC>AAC	p.T417N	CADPS2_uc003vkg.3_Missense_Mutation_p.T117N|CADPS2_uc010lkq.2_Missense_Mutation_p.T417N	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						AGGATGGGTGGTGGTGAAATC	0.443		NA											16	101					3.41e-10	6.92e-10	1	0
IQUB	154865	broad.mit.edu	37	7	123143292	123143292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:123143292C>G	uc003vkn.2	-	4	1235	c.658G>C	c.(658-660)GAT>CAT	p.D220H	IQUB_uc003vko.2_Missense_Mutation_p.D220H|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.D220H|IQUB_uc003vkq.2_Missense_Mutation_p.D220H	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	220										ovary(3)|large_intestine(1)	4						TGAGAGACATCAGTTAATCCA	0.358		NA											25	84					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:146829568C>T	uc003weu.1	+	8	1831	c.1315C>T	c.(1315-1317)CAG>TAG	p.Q439*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	439	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423		NA								HNSCC(39;0.1)			4	32					0	0	0	0
CRYGN	155051	broad.mit.edu	37	7	151127188	151127188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151127188C>G	uc003wke.2	-	4	591	c.495G>C	c.(493-495)GAG>GAC	p.E165D	CRYGN_uc003wkf.2_3'UTR|CRYGN_uc003wkg.2_RNA	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	165											0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTGGTGGCCTCTTCCGGTC	0.532		NA											18	63					0	0	0	0
GALNT11	63917	broad.mit.edu	37	7	151797963	151797963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151797963C>T	uc010lqg.1	+	3	606	c.376C>T	c.(376-378)CGC>TGC	p.R126C	GALNT11_uc011kvm.1_Missense_Mutation_p.R45C|GALNT11_uc003wku.2_Missense_Mutation_p.R126C|GALNT11_uc003wkv.1_Missense_Mutation_p.R126C|GALNT11_uc011kvn.1_Intron	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	126	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TATCAGTGACCGCTTGGGCTA	0.408		NA											20	79					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	151845956	151845956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151845956C>T	uc003wla.2	-	52	13275	c.13056G>A	c.(13054-13056)TGG>TGA	p.W4352*	MLL3_uc003wkz.2_Nonsense_Mutation_p.W3470*|MLL3_uc003wkx.2_Nonsense_Mutation_p.W510*|MLL3_uc003wky.2_Nonsense_Mutation_p.W1916*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4352					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCATTCCTCTCCATTTTTTAT	0.433		NA	N		medulloblastoma								11	41					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2823313	2823313	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:2823313G>T	uc011kwk.1	-	59	9657	c.9267C>A	c.(9265-9267)AGC>AGA	p.S3089R	CSMD1_uc011kwj.1_Missense_Mutation_p.S2418R|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3089	Extracellular (Potential).|Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACAGGTTTGCTCGGATTCC	0.403		NA											7	10					0.000274275	0.00046424	1	0
LZTS1	11178	broad.mit.edu	37	8	20107319	20107319	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:20107319G>A	uc003wzr.2	-	3	1816	c.1705C>T	c.(1705-1707)CGT>TGT	p.R569C	LZTS1_uc010ltg.1_Missense_Mutation_p.R510C	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	569					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGTCCCCACGTGCCAGCTGC	0.617		NA											18	104					0	0	0	0
TEX15	56154	broad.mit.edu	37	8	30703870	30703870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:30703870T>C	uc003xil.2	-	1	2664	c.2664A>G	c.(2662-2664)ATA>ATG	p.I888M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	888										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCATCATCTATTGTTGTGA	0.328		NA											15	53					0	0	0	0
TACC1	6867	broad.mit.edu	37	8	38699961	38699961	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:38699961A>C	uc010lwp.2	+	10	2496	c.2117A>C	c.(2116-2118)AAG>ACG	p.K706T	TACC1_uc003xma.2_Missense_Mutation_p.K144T|TACC1_uc003xlz.2_Missense_Mutation_p.K511T|TACC1_uc003xmc.3_Missense_Mutation_p.K510T|TACC1_uc011lbz.1_Missense_Mutation_p.K693T|TACC1_uc003xmb.3_Missense_Mutation_p.K632T|TACC1_uc003xmf.3_Missense_Mutation_p.K296T|TACC1_uc011lca.1_Missense_Mutation_p.K689T|TACC1_uc011lcb.1_Missense_Mutation_p.K482T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.K523T|TACC1_uc010lwq.2_Missense_Mutation_p.K522T	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	706	|Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGGGTTCAAGAAGGTAGAG	0.453		NA											24	63					0	0	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500951	95500951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:95500951G>A	uc003ygo.1	-	24	5435	c.5422C>T	c.(5422-5424)CGC>TGC	p.R1808C	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1808					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAAGGAGCGTACATGACGA	0.438		NA											28	77					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:113353910G>T	uc003ynu.2	-	42	6607	c.6448C>A	c.(6448-6450)CAT>AAT	p.H2150N	CSMD3_uc003yns.2_Missense_Mutation_p.H1352N|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110N|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2150	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AACTGGAGATGTACACCTGAA	0.343		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	14					5.04e-11	1.03e-10	1	0
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:125555397G>A	uc003yrg.3	+	2	256	c.171G>A	c.(169-171)ATG>ATA	p.M57I	NDUFB9_uc011lim.1_Missense_Mutation_p.M57I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	57					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAAGGATATGGCGAAGGCCA	0.463		NA											29	24					0	0	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231850	142231850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:142231850A>G	uc003ywd.1	-	2	411	c.103T>C	c.(103-105)TAC>CAC	p.Y35H	SLC45A4_uc003ywc.1_Missense_Mutation_p.Y35H|SLC45A4_uc010meq.1_Missense_Mutation_p.Y33H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	86	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCTGTAGTACTGCTCCGGA	0.662		NA											37	28					0	0	0	0
RHPN1	114822	broad.mit.edu	37	8	144459586	144459586	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144459586G>T	uc003yyb.2	+	4	475	c.342G>T	c.(340-342)CTG>CTT	p.L114L		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	114	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCCTGGGCCTGAAGGAGACCA	0.577		NA											21	20					0.000295444	0.000499422	1	0
EPPK1	83481	broad.mit.edu	37	8	144940823	144940823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144940823A>G	uc003zaa.1	-	1	6612	c.6599T>C	c.(6598-6600)CTG>CCG	p.L2200P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2200						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCGTTTCCAGGTCCTGGAG	0.592		NA											5	291					0	0	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321004	79321004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:79321004C>A	uc010mpk.2	-	8	6310	c.6186G>T	c.(6184-6186)CAG>CAT	p.Q2062H	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2062					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CAGAGGCCAGCTGCCCACCCT	0.522		NA											38	114					2.04e-09	4.08e-09	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899643	112899643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:112899643G>C	uc004bei.2	+	9	2707	c.2515G>C	c.(2515-2517)GTC>CTC	p.V839L	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.V607L|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.V607L|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.V417L|AKAP2_uc011lwi.1_Missense_Mutation_p.V465L|AKAP2_uc004bem.2_Missense_Mutation_p.V465L|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.V425L|AKAP2_uc011lwj.1_Missense_Mutation_p.V376L|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.V376L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	376							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						ACCACCTTCTGTCGGGGGACC	0.607		NA											64	57					0	0	0	0
DBC1	1620	broad.mit.edu	37	9	121929752	121929752	+	Missense_Mutation	SNP	C	C	A	rs112348256	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:121929752C>A	uc004bkc.2	-	8	2352	c.1896G>T	c.(1894-1896)GAG>GAT	p.E632D		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	632					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CCTGGCCAGTCTCATTTCGCA	0.537		NA											91	97					6.04e-29	1.35e-28	1	0
MXRA5	25878	broad.mit.edu	37	X	3229299	3229299	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:3229299C>T	uc004crg.3	-	7	7102	c.6945G>A	c.(6943-6945)GGG>GGA	p.G2315G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2315	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCCCTCATCCCCACTTCGT	0.547		NA											46	87					0	0	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734346	12734346	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12734346A>G	uc004cuz.1	+	15	2274	c.1768A>G	c.(1768-1770)AAA>GAA	p.K590E	FRMPD4_uc011mij.1_Missense_Mutation_p.K582E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	590					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CATGTGTCCAAAAGAGCACCG	0.507		NA											30	67					0	0	0	0
TLR8	51311	broad.mit.edu	37	X	12939289	12939289	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12939289T>C	uc004cve.2	+	2	2198	c.2130T>C	c.(2128-2130)TTT>TTC	p.F710F	TLR8_uc004cvd.2_Silent_p.F728F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	710	LRR 21.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TATCTGACTTTACATCTTCCC	0.428		NA											40	98					0	0	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212351	26212351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:26212351G>T	uc004dbr.2	+	2	537	c.388G>T	c.(388-390)GGC>TGC	p.G130C	MAGEB6_uc010ngc.1_Intron	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	130	Ser-rich.									ovary(3)	3						GGCTGCCAACGGCCAAGATGA	0.557		NA											36	51					3.04e-20	6.71e-20	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766814	27766814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:27766814C>G	uc011mjy.1	+	1	1889	c.1802C>G	c.(1801-1803)GCT>GGT	p.A601G		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2						AGTGGTGAAGCTGAATTTCCA	0.537		NA											5	11					0	0	0	0
FAM47B	170062	broad.mit.edu	37	X	34960984	34960984	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:34960984C>A	uc004ddi.1	+	1	54	c.36C>A	c.(34-36)TCC>TCA	p.S12S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	12										ovary(3)|breast(1)	4						GGCCAAGGTCCCAAGGCATGG	0.632		NA											7	15					0.000157383	0.000272033	1	0
DGKK	139189	broad.mit.edu	37	X	50119165	50119165	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:50119165C>A	uc010njr.1	-	25	3333	c.3273_splice	c.e25-1	p.K1091_splice		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GTCATTAAGTCTGTAATAAAG	0.478		NA											13	24					4.75e-09	9.4e-09	1	0
ITM2A	9452	broad.mit.edu	37	X	78616913	78616913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:78616913G>A	uc004edh.2	-	5	951	c.616C>T	c.(616-618)CGT>TGT	p.R206C	ITM2A_uc011mqr.1_Missense_Mutation_p.R162C	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	206	BRICHOS.					integral to membrane	protein binding			lung(2)	2						CTAACATCACGAATTTCCTCC	0.398		NA											22	41					0	0	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177112	89177112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:89177112G>T	uc004efe.2	+	2	77	c.28G>T	c.(28-30)GAG>TAG	p.E10*		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGGCCCGGCTGAGACCCAAAG	0.522		NA											26	47					4.88e-14	1.02e-13	1	0
DOCK11	139818	broad.mit.edu	37	X	117817178	117817178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:117817178C>T	uc004eqp.2	+	52	6163	c.6100C>T	c.(6100-6102)CAG>TAG	p.Q2034*	DOCK11_uc004eqq.2_Nonsense_Mutation_p.Q1813*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2034					blood coagulation	cytosol	GTP binding			ovary(3)	3						TATCCATGAGCAGGCAAGTAT	0.358		NA											29	43					0	0	0	0
CUL4B	8450	broad.mit.edu	37	X	119677600	119677600	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:119677600T>G	uc004esw.2	-	10	1729	c.1292A>C	c.(1291-1293)TAC>TCC	p.Y431S	CUL4B_uc010nqq.2_Missense_Mutation_p.Y130S|CUL4B_uc004esv.2_Missense_Mutation_p.Y413S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						CTGATCTAAGTAAGTAATAAG	0.348		NA											24	42					0	0	0	0
FRMD7	90167	broad.mit.edu	37	X	131212467	131212468	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212467_131212468AG>GT	uc004ewn.2	-	12	1755_1756	c.1577_1578CT>AC	c.(1576-1578)ACT>AAC	p.T526N	FRMD7_uc011muy.1_Missense_Mutation_p.T511N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCTTCATTGCAGTGGGCTCTAC	0.495		NA											68	129					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995218	140995219	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995218_140995219CC>AA	uc004fbt.2	+	4	2314_2315	c.2028_2029CC>AA	c.(2026-2031)CTCCAG>CTAAAG	p.Q677K	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCCTCTCCAGAGTCCTGA	0.564		NA								HNSCC(15;0.026)			51	98					0	0	0	0
TKTL1	8277	broad.mit.edu	37	X	153533683	153533683	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:153533683T>A	uc004fkg.2	+	2	348	c.162T>A	c.(160-162)TCT>TCA	p.S54S	TKTL1_uc011mzl.1_Silent_p.S48S|TKTL1_uc011mzm.1_Silent_p.S54S|TKTL1_uc004fkh.2_5'UTR	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	54					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTTCTTCTGAGATCATGT	0.498		NA											21	43					0	0	0	0
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4409705delT	uc001lyy.1	-	4	673	c.560delA	c.(559-561)AACfs	p.N187fs		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	187	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483		NA											9	431	---	---	---	---	NA	NA	NA	NA
DPF2	5977	broad.mit.edu	37	11	65113793	65113793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:65113793delG	uc001odm.2	+	9	992	c.980delG	c.(979-981)TGCfs	p.C327fs	DPF2_uc001odn.2_Frame_Shift_Del_p.C341fs|DPF2_uc010roe.1_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	327	PHD-type 1.|PHD-type 2.				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TGCATCGAGTGCAAATGTTGC	0.552		NA											12	40	---	---	---	---	NA	NA	NA	NA
MPZL3	196264	broad.mit.edu	37	11	118122936	118122937	+	Splice_Site	DEL	CC	CC	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118122936_118122937delCC	uc001psm.2	-	1	75	c.73_splice	c.e1+1	p.G25_splice	MPZL3_uc010rxy.1_Splice_Site_p.D25_splice|MPZL3_uc010rxz.1_Splice_Site|MPZL3_uc009yzy.2_Splice_Site	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor						cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAGCACTCACCCTGGAAGAAC	0.644		NA											20	138	---	---	---	---	NA	NA	NA	NA
RARA	5914	broad.mit.edu	37	17	38508182	38508184	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:38508182_38508184delAAG	uc002huk.1	+	5	945_947	c.490_492delAAG	c.(490-492)AAGdel	p.K167del	RARA_uc002hul.3_In_Frame_Del_p.K167del|RARA_uc010wfe.1_In_Frame_Del_p.K70del|RARA_uc002hun.1_In_Frame_Del_p.K162del	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	167	Hinge.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGACCGAAACAAGAAGAAGAAGG	0.616		NA	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								8	18	---	---	---	---	NA	NA	NA	NA
IMP5	162540	broad.mit.edu	37	17	43922897	43922897	+	Frame_Shift_Del	DEL	G	G	-	rs929223		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:43922897delG	uc010wka.1	+	1	625	c.625delG	c.(625-627)GAAfs	p.E209fs	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	209	Cytoplasmic (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		CGGCCTGACCGAAGCCAACCG	0.647		NA											35	65	---	---	---	---	NA	NA	NA	NA
ABCA7	10347	broad.mit.edu	37	19	1058907	1058912	+	In_Frame_Del	DEL	GGGGAT	GGGGAT	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:1058907_1058912delGGGGAT	uc002lqw.3	+	39	5599_5604	c.5368_5373delGGGGAT	c.(5368-5373)GGGGATdel	p.GD1790del	ABCA7_uc002lqy.2_In_Frame_Del_p.GD243del|ABCA7_uc010dsc.2_RNA	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1790_1791					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACCCAGGGGGATGTGTTGGTGC	0.626		NA											10	56	---	---	---	---	NA	NA	NA	NA
DUS3L	56931	broad.mit.edu	37	19	5787365	5787365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5787365delC	uc002mdc.2	-	7	1317	c.1220delG	c.(1219-1221)GGCfs	p.G407fs	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Frame_Shift_Del_p.G165fs|DUS3L_uc010duk.2_Frame_Shift_Del_p.G72fs	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	407					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GAGGGCACAGCCCCCACCCTG	0.662		NA											17	52	---	---	---	---	NA	NA	NA	NA
CRLF1	9244	broad.mit.edu	37	19	18707506	18707506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:18707506delC	uc010ebt.1	-	6	1144	c.950delG	c.(949-951)GGCfs	p.G317fs		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	317	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						GCCATAGATGCCAAAGGGGTT	0.642		NA											7	27	---	---	---	---	NA	NA	NA	NA
ZNF253	56242	broad.mit.edu	37	19	20002921	20002922	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:20002921_20002922delTG	uc002noj.2	+	4	957_958	c.865_866delTG	c.(865-867)TGTfs	p.C289fs	ZNF253_uc002nok.2_Frame_Shift_Del_p.C213fs|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	289	C2H2-type 5.			Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTGAAGAATGTGGCAAAGCC	0.411		NA											19	50	---	---	---	---	NA	NA	NA	NA
FRZB	2487	broad.mit.edu	37	2	183723523	183723523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:183723523delC	uc002upa.1	-	2	735	c.517delG	c.(517-519)GCAfs	p.A173fs		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	173					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348		NA											32	120	---	---	---	---	NA	NA	NA	NA
ALPK1	80216	broad.mit.edu	37	4	113351810	113351811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:113351810_113351811insG	uc003iap.3	+	11	1386_1387	c.1107_1108insG	c.(1105-1110)CATGGGfs	p.H369fs	ALPK1_uc003ian.3_Frame_Shift_Ins_p.H369fs|ALPK1_uc011cfx.1_Frame_Shift_Ins_p.H291fs|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Frame_Shift_Ins_p.H197fs	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	369_370							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAAGGCTCCATGGGGAGACAGG	0.515		NA											21	57	---	---	---	---	NA	NA	NA	NA
TMEM170B	100113407	broad.mit.edu	37	6	11565999	11565999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:11565999delG	uc010jpa.2	+	2	198	c.198delG	c.(196-198)CAGfs	p.Q66fs		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	66	Cytoplasmic (Potential).					integral to membrane					0						GGCATAGGCAGGGAAGAGTCA	0.463		NA											33	157	---	---	---	---	NA	NA	NA	NA